Name: rs117888848
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs117888848

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:193615011 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.002886 (764/264690, TOPMED)
A=0.006160 (1532/248716, GnomAD_exome)
A=0.002118 (297/140222, GnomAD) (+ 18 more)
A=0.006452 (780/120902, ExAC)
A=0.00285 (190/66780, ALFA)
A=0.03031 (508/16760, 8.3KJPN)
A=0.00277 (36/13006, GO-ESP)
A=0.0064 (41/6404, 1000G_30x)
A=0.0070 (35/5008, 1000G)
A=0.0022 (10/4480, Estonian)
A=0.0021 (8/3854, ALSPAC)
A=0.0008 (3/3708, TWINSUK)
A=0.0264 (77/2922, KOREAN)
A=0.0251 (46/1832, Korea1K)
A=0.002 (2/998, GoNL)
A=0.002 (1/600, NorthernSweden)
A=0.005 (1/216, Qatari)
G=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: OPA1 : Synonymous Variant
Publications: 1 citation
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	83076	G=0.99740	A=0.00260	0.994848	4.8e-05	0.005104	6
European	Sub	63734	G=0.99727	A=0.00273	0.994571	0.000031	0.005397	2
African	Sub	8586	G=0.9994	A=0.0006	0.998835	0.0	0.001165	0
African Others	Sub	316	G=1.000	A=0.000	1.0	0.0	0.0	N/A
African American	Sub	8270	G=0.9994	A=0.0006	0.998791	0.0	0.001209	0
Asian	Sub	182	G=0.984	A=0.016	0.967033	0.0	0.032967	0
East Asian	Sub	124	G=0.976	A=0.024	0.951613	0.0	0.048387	0
Other Asian	Sub	58	G=1.00	A=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	518	G=1.000	A=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	702	G=0.999	A=0.001	0.997151	0.0	0.002849	0
South Asian	Sub	114	G=0.991	A=0.009	0.982456	0.0	0.017544	0
Other	Sub	9240	G=0.9965	A=0.0035	0.99329	0.000216	0.006494	9

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.997114	A=0.002886
gnomAD - Exomes	Global	Study-wide	248716	G=0.993840	A=0.006160
gnomAD - Exomes	European	Sub	132894	G=0.997487	A=0.002513
gnomAD - Exomes	Asian	Sub	49004	G=0.97874	A=0.02126
gnomAD - Exomes	American	Sub	34584	G=0.99818	A=0.00182
gnomAD - Exomes	African	Sub	16060	G=0.99963	A=0.00037
gnomAD - Exomes	Ashkenazi Jewish	Sub	10068	G=0.99424	A=0.00576
gnomAD - Exomes	Other	Sub	6106	G=0.9953	A=0.0047
gnomAD - Genomes	Global	Study-wide	140222	G=0.997882	A=0.002118
gnomAD - Genomes	European	Sub	75926	G=0.99768	A=0.00232
gnomAD - Genomes	African	Sub	42036	G=0.99962	A=0.00038
gnomAD - Genomes	American	Sub	13654	G=0.99751	A=0.00249
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.9925	A=0.0075
gnomAD - Genomes	East Asian	Sub	3134	G=0.9872	A=0.0128
gnomAD - Genomes	Other	Sub	2150	G=0.9972	A=0.0028
ExAC	Global	Study-wide	120902	G=0.993548	A=0.006452
ExAC	Europe	Sub	73220	G=0.99708	A=0.00292
ExAC	Asian	Sub	25152	G=0.97948	A=0.02052
ExAC	American	Sub	11546	G=0.99732	A=0.00268
ExAC	African	Sub	10076	G=0.99931	A=0.00069
ExAC	Other	Sub	908	G=0.987	A=0.013
Allele Frequency Aggregator	Total	Global	66780	G=0.99715	A=0.00285
Allele Frequency Aggregator	European	Sub	53706	G=0.99715	A=0.00285
Allele Frequency Aggregator	Other	Sub	7806	G=0.9962	A=0.0038
Allele Frequency Aggregator	African	Sub	3752	G=0.9995	A=0.0005
Allele Frequency Aggregator	Latin American 2	Sub	702	G=0.999	A=0.001
Allele Frequency Aggregator	Latin American 1	Sub	518	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	182	G=0.984	A=0.016
Allele Frequency Aggregator	South Asian	Sub	114	G=0.991	A=0.009
8.3KJPN	JAPANESE	Study-wide	16760	G=0.96969	A=0.03031
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99723	A=0.00277
GO Exome Sequencing Project	European American	Sub	8600	G=0.9960	A=0.0040
GO Exome Sequencing Project	African American	Sub	4406	G=0.9995	A=0.0005
1000Genomes_30x	Global	Study-wide	6404	G=0.9936	A=0.0064
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9968	A=0.0032
1000Genomes_30x	South Asian	Sub	1202	G=0.9892	A=0.0108
1000Genomes_30x	East Asian	Sub	1170	G=0.9829	A=0.0171
1000Genomes_30x	American	Sub	980	G=0.996	A=0.004
1000Genomes	Global	Study-wide	5008	G=0.9930	A=0.0070
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=0.9821	A=0.0179
1000Genomes	Europe	Sub	1006	G=0.9960	A=0.0040
1000Genomes	South Asian	Sub	978	G=0.990	A=0.010
1000Genomes	American	Sub	694	G=0.996	A=0.004
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9978	A=0.0022
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9979	A=0.0021
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9992	A=0.0008
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9736	A=0.0264
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9749	A=0.0251
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.998	A=0.002
Northern Sweden	ACPOP	Study-wide	600	G=0.998	A=0.002
Qatari	Global	Study-wide	216	G=0.995	A=0.005
SGDP_PRJ	Global	Study-wide	14	G=0.50	A=0.50
Siberian	Global	Study-wide	2	G=0.5	A=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 3	NC_000003.12:g.193615011G>A
GRCh38.p14 chr 3	NC_000003.12:g.193615011G>T
GRCh37.p13 chr 3	NC_000003.11:g.193332800G>A
GRCh37.p13 chr 3	NC_000003.11:g.193332800G>T
OPA1 RefSeqGene (LRG_337)	NG_011605.1:g.26868G>A
OPA1 RefSeqGene (LRG_337)	NG_011605.1:g.26868G>T

Gene: OPA1, OPA1 mitochondrial dynamin like GTPase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OPA1 transcript variant 10	NM_001354664.2:c.-52=	N/A	5 Prime UTR Variant
OPA1 transcript variant 9	NM_001354663.2:c.-52=	N/A	5 Prime UTR Variant
OPA1 transcript variant 2	NM_130831.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 2	NP_570844.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 2	NM_130831.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 2	NP_570844.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 7	NM_130836.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 7	NP_570849.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 7	NM_130836.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 7	NP_570849.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 3	NM_130832.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 3	NP_570845.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 3	NM_130832.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 3	NP_570845.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 5	NM_130834.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 5 preproprotein	NP_570847.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 5	NM_130834.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 5 preproprotein	NP_570847.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 4	NM_130833.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 4	NP_570846.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 4	NM_130833.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 4	NP_570846.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 1	NM_015560.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein	NP_056375.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 1	NM_015560.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein	NP_056375.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 8	NM_130837.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 8	NP_570850.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 8	NM_130837.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 8	NP_570850.2:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 6	NM_130835.3:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 6	NP_570848.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant 6	NM_130835.3:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform 6	NP_570848.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X7	XM_047448212.1:c.-52=	N/A	5 Prime UTR Variant
OPA1 transcript variant X9	XM_047448214.1:c.	N/A	Genic Upstream Transcript Variant
OPA1 transcript variant X10	XM_047448216.1:c.	N/A	Genic Upstream Transcript Variant
OPA1 transcript variant X1	XM_047448206.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X1	XP_047304162.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X1	XM_047448206.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X1	XP_047304162.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X2	XM_047448207.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X2	XP_047304163.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X2	XM_047448207.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X2	XP_047304163.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X3	XM_047448208.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X3	XP_047304164.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X3	XM_047448208.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X3	XP_047304164.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X4	XM_047448209.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X4	XP_047304165.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X4	XM_047448209.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X4	XP_047304165.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X5	XM_047448210.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X5	XP_047304166.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X5	XM_047448210.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X5	XP_047304166.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X6	XM_047448211.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X6	XP_047304167.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X6	XM_047448211.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X6	XP_047304167.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X8	XM_047448213.1:c.321G>A	S [TCG] > S [TCA]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X8	XP_047304169.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant
OPA1 transcript variant X8	XM_047448213.1:c.321G>T	S [TCG] > S [TCT]	Coding Sequence Variant
dynamin-like GTPase OPA1, mitochondrial isoform X8	XP_047304169.1:p.Ser107=	S (Ser) > S (Ser)	Synonymous Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: A (allele ID: 101621 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000081765.7	not specified	Benign
RCV000337795.5	Autosomal dominant optic atrophy classic form	Benign
RCV000712466.7	not provided	Benign
RCV001787890.2	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	Benign
RCV001787891.2	Abortive cerebellar ataxia	Benign
RCV001787892.2	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	T
GRCh38.p14 chr 3	NC_000003.12:g.193615011=	NC_000003.12:g.193615011G>A	NC_000003.12:g.193615011G>T
GRCh37.p13 chr 3	NC_000003.11:g.193332800=	NC_000003.11:g.193332800G>A	NC_000003.11:g.193332800G>T
OPA1 RefSeqGene (LRG_337)	NG_011605.1:g.26868=	NG_011605.1:g.26868G>A	NG_011605.1:g.26868G>T
OPA1 transcript variant 8	NM_130837.3:c.321=	NM_130837.3:c.321G>A	NM_130837.3:c.321G>T
OPA1 transcript variant 8	NM_130837.2:c.321=	NM_130837.2:c.321G>A	NM_130837.2:c.321G>T
OPA1 transcript variant 7	NM_130836.3:c.321=	NM_130836.3:c.321G>A	NM_130836.3:c.321G>T
OPA1 transcript variant 7	NM_130836.2:c.321=	NM_130836.2:c.321G>A	NM_130836.2:c.321G>T
OPA1 transcript variant 6	NM_130835.3:c.321=	NM_130835.3:c.321G>A	NM_130835.3:c.321G>T
OPA1 transcript variant 6	NM_130835.2:c.321=	NM_130835.2:c.321G>A	NM_130835.2:c.321G>T
OPA1 transcript variant 5	NM_130834.3:c.321=	NM_130834.3:c.321G>A	NM_130834.3:c.321G>T
OPA1 transcript variant 5	NM_130834.2:c.321=	NM_130834.2:c.321G>A	NM_130834.2:c.321G>T
OPA1 transcript variant 4	NM_130833.3:c.321=	NM_130833.3:c.321G>A	NM_130833.3:c.321G>T
OPA1 transcript variant 4	NM_130833.2:c.321=	NM_130833.2:c.321G>A	NM_130833.2:c.321G>T
OPA1 transcript variant 1	NM_015560.3:c.321=	NM_015560.3:c.321G>A	NM_015560.3:c.321G>T
OPA1 transcript variant 1	NM_015560.2:c.321=	NM_015560.2:c.321G>A	NM_015560.2:c.321G>T
OPA1 transcript variant 3	NM_130832.3:c.321=	NM_130832.3:c.321G>A	NM_130832.3:c.321G>T
OPA1 transcript variant 3	NM_130832.2:c.321=	NM_130832.2:c.321G>A	NM_130832.2:c.321G>T
OPA1 transcript variant 2	NM_130831.3:c.321=	NM_130831.3:c.321G>A	NM_130831.3:c.321G>T
OPA1 transcript variant 2	NM_130831.2:c.321=	NM_130831.2:c.321G>A	NM_130831.2:c.321G>T
OPA1 transcript variant 9	NM_001354663.2:c.-52=	NM_001354663.2:c.-52G>A	NM_001354663.2:c.-52G>T
OPA1 transcript variant 9	NM_001354663.1:c.-52=	NM_001354663.1:c.-52G>A	NM_001354663.1:c.-52G>T
OPA1 transcript variant 10	NM_001354664.2:c.-52=	NM_001354664.2:c.-52G>A	NM_001354664.2:c.-52G>T
OPA1 transcript variant 10	NM_001354664.1:c.-52=	NM_001354664.1:c.-52G>A	NM_001354664.1:c.-52G>T
OPA1 transcript variant X7	XM_047448212.1:c.-52=	XM_047448212.1:c.-52G>A	XM_047448212.1:c.-52G>T
OPA1 transcript variant X1	XM_047448206.1:c.321=	XM_047448206.1:c.321G>A	XM_047448206.1:c.321G>T
OPA1 transcript variant X2	XM_047448207.1:c.321=	XM_047448207.1:c.321G>A	XM_047448207.1:c.321G>T
OPA1 transcript variant X3	XM_047448208.1:c.321=	XM_047448208.1:c.321G>A	XM_047448208.1:c.321G>T
OPA1 transcript variant X4	XM_047448209.1:c.321=	XM_047448209.1:c.321G>A	XM_047448209.1:c.321G>T
OPA1 transcript variant X5	XM_047448210.1:c.321=	XM_047448210.1:c.321G>A	XM_047448210.1:c.321G>T
OPA1 transcript variant X6	XM_047448211.1:c.321=	XM_047448211.1:c.321G>A	XM_047448211.1:c.321G>T
OPA1 transcript variant X8	XM_047448213.1:c.321=	XM_047448213.1:c.321G>A	XM_047448213.1:c.321G>T
dynamin-like GTPase OPA1, mitochondrial isoform 8	NP_570850.2:p.Ser107=	NP_570850.2:p.Ser107=	NP_570850.2:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 7	NP_570849.2:p.Ser107=	NP_570849.2:p.Ser107=	NP_570849.2:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 6	NP_570848.1:p.Ser107=	NP_570848.1:p.Ser107=	NP_570848.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 5 preproprotein	NP_570847.2:p.Ser107=	NP_570847.2:p.Ser107=	NP_570847.2:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 4	NP_570846.1:p.Ser107=	NP_570846.1:p.Ser107=	NP_570846.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 1 preproprotein	NP_056375.2:p.Ser107=	NP_056375.2:p.Ser107=	NP_056375.2:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 3	NP_570845.1:p.Ser107=	NP_570845.1:p.Ser107=	NP_570845.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform 2	NP_570844.1:p.Ser107=	NP_570844.1:p.Ser107=	NP_570844.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X1	XP_047304162.1:p.Ser107=	XP_047304162.1:p.Ser107=	XP_047304162.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X2	XP_047304163.1:p.Ser107=	XP_047304163.1:p.Ser107=	XP_047304163.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X3	XP_047304164.1:p.Ser107=	XP_047304164.1:p.Ser107=	XP_047304164.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X4	XP_047304165.1:p.Ser107=	XP_047304165.1:p.Ser107=	XP_047304165.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X5	XP_047304166.1:p.Ser107=	XP_047304166.1:p.Ser107=	XP_047304166.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X6	XP_047304167.1:p.Ser107=	XP_047304167.1:p.Ser107=	XP_047304167.1:p.Ser107=
dynamin-like GTPase OPA1, mitochondrial isoform X8	XP_047304169.1:p.Ser107=	XP_047304169.1:p.Ser107=	XP_047304169.1:p.Ser107=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

59 SubSNP, 21 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss239538906	Jul 15, 2010 (132)
2	NHLBI-ESP	ss342155094	May 09, 2011 (134)
3	ILLUMINA	ss481543638	May 04, 2012 (137)
4	ILLUMINA	ss484542899	May 04, 2012 (137)
5	1000GENOMES	ss490880632	May 04, 2012 (137)
6	CLINSEQ_SNP	ss491847421	May 04, 2012 (137)
7	ILLUMINA	ss534310076	Sep 08, 2015 (146)
8	SSMP	ss650968091	Apr 25, 2013 (138)
9	ILLUMINA	ss779104132	Sep 08, 2015 (146)
10	ILLUMINA	ss781507798	Sep 08, 2015 (146)
11	ILLUMINA	ss834568219	Sep 08, 2015 (146)
12	EVA-GONL	ss979619643	Aug 21, 2014 (142)
13	1000GENOMES	ss1307888931	Aug 21, 2014 (142)
14	EVA_DECODE	ss1589118619	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1609137734	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1652131767	Apr 01, 2015 (144)
17	EVA_EXAC	ss1687344267	Apr 01, 2015 (144)
18	WEILL_CORNELL_DGM	ss1922842391	Feb 12, 2016 (147)
19	USC_VALOUEV	ss2150098611	Dec 20, 2016 (150)
20	HUMAN_LONGEVITY	ss2259449572	Dec 20, 2016 (150)
21	SYSTEMSBIOZJU	ss2625499880	Nov 08, 2017 (151)
22	ILLUMINA	ss2634064351	Nov 08, 2017 (151)
23	GRF	ss2705526249	Nov 08, 2017 (151)
24	GNOMAD	ss2734278878	Nov 08, 2017 (151)
25	GNOMAD	ss2747162671	Nov 08, 2017 (151)
26	GNOMAD	ss2804082583	Nov 08, 2017 (151)
27	AFFY	ss2985280797	Nov 08, 2017 (151)
28	SWEGEN	ss2993892684	Nov 08, 2017 (151)
29	ILLUMINA	ss3628872210	Oct 12, 2018 (152)
30	ILLUMINA	ss3632004692	Oct 12, 2018 (152)
31	OMUKHERJEE_ADBS	ss3646297176	Oct 12, 2018 (152)
32	ILLUMINA	ss3654051052	Oct 12, 2018 (152)
33	EGCUT_WGS	ss3661853871	Jul 13, 2019 (153)
34	EVA_DECODE	ss3711133757	Jul 13, 2019 (153)
35	ACPOP	ss3730730217	Jul 13, 2019 (153)
36	EVA	ss3761222771	Jul 13, 2019 (153)
37	KHV_HUMAN_GENOMES	ss3804362909	Jul 13, 2019 (153)
38	EVA	ss3823985172	Apr 25, 2020 (154)
39	SGDP_PRJ	ss3857891539	Apr 25, 2020 (154)
40	KRGDB	ss3903988636	Apr 25, 2020 (154)
41	KOGIC	ss3953244000	Apr 25, 2020 (154)
42	EVA	ss3986266003	Apr 26, 2021 (155)
43	TOPMED	ss4598648105	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5163544095	Apr 26, 2021 (155)
45	EVA	ss5237002831	Apr 26, 2021 (155)
46	EVA	ss5237641088	Oct 13, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5257546549	Oct 13, 2022 (156)
48	TRAN_CS_UWATERLOO	ss5314409233	Oct 13, 2022 (156)
49	EVA	ss5314924670	Oct 13, 2022 (156)
50	EVA	ss5346042682	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5456541918	Oct 13, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5537774107	Oct 13, 2022 (156)
53	SANFORD_IMAGENETICS	ss5634062343	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5696984808	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5696984809	Oct 13, 2022 (156)
56	YY_MCH	ss5804623188	Oct 13, 2022 (156)
57	EVA	ss5827069359	Oct 13, 2022 (156)
58	EVA	ss5872743394	Oct 13, 2022 (156)
59	EVA	ss5962449035	Oct 13, 2022 (156)
60	1000Genomes	NC_000003.11 - 193332800	Oct 12, 2018 (152)
61	1000Genomes_30x	NC_000003.12 - 193615011	Oct 13, 2022 (156)
62	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 193332800	Oct 12, 2018 (152)
63	Genetic variation in the Estonian population	NC_000003.11 - 193332800	Oct 12, 2018 (152)
64	ExAC	NC_000003.11 - 193332800	Oct 12, 2018 (152)
65	gnomAD - Genomes	NC_000003.12 - 193615011	Apr 26, 2021 (155)
66	gnomAD - Exomes	NC_000003.11 - 193332800	Jul 13, 2019 (153)
67	GO Exome Sequencing Project	NC_000003.11 - 193332800	Oct 12, 2018 (152)
68	Genome of the Netherlands Release 5	NC_000003.11 - 193332800	Apr 25, 2020 (154)
69	KOREAN population from KRGDB	NC_000003.11 - 193332800	Apr 25, 2020 (154)
70	Korean Genome Project	NC_000003.12 - 193615011	Apr 25, 2020 (154)
71	Northern Sweden	NC_000003.11 - 193332800	Jul 13, 2019 (153)
72	Qatari	NC_000003.11 - 193332800	Apr 25, 2020 (154)
73	SGDP_PRJ	NC_000003.11 - 193332800	Apr 25, 2020 (154)
74	Siberian	NC_000003.11 - 193332800	Apr 25, 2020 (154)
75	8.3KJPN	NC_000003.11 - 193332800	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 30821912 (NC_000003.12:193615010:G:A 865/28258) Row 30821913 (NC_000003.12:193615010:G:T 2/28258)	-	Oct 13, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 30821912 (NC_000003.12:193615010:G:A 865/28258) Row 30821913 (NC_000003.12:193615010:G:T 2/28258)	-	Oct 13, 2022 (156)
78	TopMed	NC_000003.12 - 193615011	Apr 26, 2021 (155)
79	UK 10K study - Twins	NC_000003.11 - 193332800	Oct 12, 2018 (152)
80	ALFA	NC_000003.12 - 193615011	Apr 26, 2021 (155)
81	ClinVar	RCV000081765.7	Oct 13, 2022 (156)
82	ClinVar	RCV000337795.5	Oct 13, 2022 (156)
83	ClinVar	RCV000712466.7	Oct 13, 2022 (156)
84	ClinVar	RCV001787890.2	Oct 13, 2022 (156)
85	ClinVar	RCV001787891.2	Oct 13, 2022 (156)
86	ClinVar	RCV001787892.2	Oct 13, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss484542899, ss491847421, ss1589118619	NC_000003.10:194815493:G:A	NC_000003.12:193615010:G:A	(self)
19219396, 10719235, 7592119, 7295333, 3374767, 443438, 4709761, 11166030, 4015082, 4884321, 9908519, 2614965, 21513402, 10719235, ss239538906, ss342155094, ss481543638, ss490880632, ss534310076, ss650968091, ss779104132, ss781507798, ss834568219, ss979619643, ss1307888931, ss1609137734, ss1652131767, ss1687344267, ss1922842391, ss2150098611, ss2625499880, ss2634064351, ss2705526249, ss2734278878, ss2747162671, ss2804082583, ss2985280797, ss2993892684, ss3628872210, ss3632004692, ss3646297176, ss3654051052, ss3661853871, ss3730730217, ss3761222771, ss3823985172, ss3857891539, ss3903988636, ss3986266003, ss5163544095, ss5314924670, ss5346042682, ss5634062343, ss5827069359, ss5962449035	NC_000003.11:193332799:G:A	NC_000003.12:193615010:G:A	(self)
RCV000081765.7, RCV000337795.5, RCV000712466.7, RCV001787890.2, RCV001787891.2, RCV001787892.2, 25300042, 136452997, 9622001, 436025660, 6580952431, ss2259449572, ss3711133757, ss3804362909, ss3953244000, ss4598648105, ss5237002831, ss5237641088, ss5257546549, ss5314409233, ss5456541918, ss5537774107, ss5696984808, ss5804623188, ss5872743394	NC_000003.12:193615010:G:A	NC_000003.12:193615010:G:A	(self)
ss5696984809	NC_000003.12:193615010:G:T	NC_000003.12:193615010:G:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs117888848

PMID	Title	Author	Year	Journal
23757202	Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.	Bean LJ et al.	2013	Human mutation

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs117888848