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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs12721593

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:89981417 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000053 (14/264690, TOPMED)
A=0.000581 (146/251376, GnomAD_exome)
A=0.000087 (16/183856, ALFA) (+ 6 more)
A=0.000036 (5/140064, GnomAD)
A=0.000726 (88/121176, ExAC)
A=0.00008 (6/78702, PAGE_STUDY)
A=0.00031 (4/13006, GO-ESP)
A=0.0009 (6/6404, 1000G_30x)
A=0.0008 (4/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NBN : Stop Gained
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 183978 G=0.999913 A=0.000087 0.999826 0.0 0.000174 0
European Sub 157804 G=0.999924 A=0.000076 0.999848 0.0 0.000152 0
African Sub 4374 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
African Others Sub 168 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 4206 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Asian Sub 6294 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 4476 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 1818 G=1.0000 A=0.0000 1.0 0.0 0.0 N/A
Latin American 1 Sub 796 G=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 968 G=1.000 A=0.000 1.0 0.0 0.0 N/A
South Asian Sub 280 G=0.993 A=0.007 0.985714 0.0 0.014286 0
Other Sub 13462 G=0.99985 A=0.00015 0.999703 0.0 0.000297 0


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999947 A=0.000053
gnomAD - Exomes Global Study-wide 251376 G=0.999419 A=0.000581
gnomAD - Exomes European Sub 135354 G=0.999919 A=0.000081
gnomAD - Exomes Asian Sub 48994 G=0.99733 A=0.00267
gnomAD - Exomes American Sub 34578 G=0.99991 A=0.00009
gnomAD - Exomes African Sub 16236 G=0.99994 A=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 183856 G=0.999913 A=0.000087
Allele Frequency Aggregator European Sub 157700 G=0.999924 A=0.000076
Allele Frequency Aggregator Other Sub 13458 G=0.99985 A=0.00015
Allele Frequency Aggregator Asian Sub 6294 G=1.0000 A=0.0000
Allele Frequency Aggregator African Sub 4360 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 968 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 796 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 280 G=0.993 A=0.007
gnomAD - Genomes Global Study-wide 140064 G=0.999964 A=0.000036
gnomAD - Genomes European Sub 75856 G=0.99995 A=0.00005
gnomAD - Genomes African Sub 41962 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13644 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2152 G=1.0000 A=0.0000
ExAC Global Study-wide 121176 G=0.999274 A=0.000726
ExAC Europe Sub 73264 G=0.99985 A=0.00015
ExAC Asian Sub 25120 G=0.99709 A=0.00291
ExAC American Sub 11564 G=0.99974 A=0.00026
ExAC African Sub 10320 G=1.00000 A=0.00000
ExAC Other Sub 908 G=0.999 A=0.001
The PAGE Study Global Study-wide 78702 G=0.99992 A=0.00008
The PAGE Study AfricanAmerican Sub 32516 G=0.99997 A=0.00003
The PAGE Study Mexican Sub 10810 G=1.00000 A=0.00000
The PAGE Study Asian Sub 8318 G=1.0000 A=0.0000
The PAGE Study PuertoRican Sub 7918 G=1.0000 A=0.0000
The PAGE Study NativeHawaiian Sub 4534 G=1.0000 A=0.0000
The PAGE Study Cuban Sub 4230 G=1.0000 A=0.0000
The PAGE Study Dominican Sub 3828 G=1.0000 A=0.0000
The PAGE Study CentralAmerican Sub 2450 G=1.0000 A=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 A=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 A=0.0000
The PAGE Study SouthAsian Sub 856 G=0.994 A=0.006
GO Exome Sequencing Project Global Study-wide 13006 G=0.99969 A=0.00031
GO Exome Sequencing Project European American Sub 8600 G=0.9995 A=0.0005
GO Exome Sequencing Project African American Sub 4406 G=1.0000 A=0.0000
1000Genomes_30x Global Study-wide 6404 G=0.9991 A=0.0009
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=0.9950 A=0.0050
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9992 A=0.0008
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.996 A=0.004
1000Genomes American Sub 694 G=1.000 A=0.000
Help

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 8 NC_000008.11:g.89981417G>A
GRCh38.p14 chr 8 NC_000008.11:g.89981417G>C
GRCh38.p14 chr 8 NC_000008.11:g.89981417G>T
GRCh37.p13 chr 8 NC_000008.10:g.90993645G>A
GRCh37.p13 chr 8 NC_000008.10:g.90993645G>C
GRCh37.p13 chr 8 NC_000008.10:g.90993645G>T
NBN RefSeqGene (LRG_158) NG_008860.1:g.8255C>T
NBN RefSeqGene (LRG_158) NG_008860.1:g.8255C>G
NBN RefSeqGene (LRG_158) NG_008860.1:g.8255C>A
Gene: NBN, nibrin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NBN transcript variant 1 NM_002485.5:c.278C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform 1 NP_002476.2:p.Ser93Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant 1 NM_002485.5:c.278C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform 1 NP_002476.2:p.Ser93Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant 1 NM_002485.5:c.278C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform 1 NP_002476.2:p.Ser93Ter S (Ser) > * (Ter) Stop Gained
NBN transcript variant 2 NM_001024688.3:c.32C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform 2 NP_001019859.1:p.Ser11Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant 2 NM_001024688.3:c.32C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform 2 NP_001019859.1:p.Ser11Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant 2 NM_001024688.3:c.32C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform 2 NP_001019859.1:p.Ser11Ter S (Ser) > * (Ter) Stop Gained
NBN transcript variant X4 XM_047421795.1:c. N/A Genic Upstream Transcript Variant
NBN transcript variant X1 XM_024447163.2:c.32C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform X1 XP_024302931.1:p.Ser11Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant X1 XM_024447163.2:c.32C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform X1 XP_024302931.1:p.Ser11Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant X1 XM_024447163.2:c.32C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform X1 XP_024302931.1:p.Ser11Ter S (Ser) > * (Ter) Stop Gained
NBN transcript variant X2 XM_011517045.2:c.32C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform X1 XP_011515347.1:p.Ser11Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant X2 XM_011517045.2:c.32C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform X1 XP_011515347.1:p.Ser11Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant X2 XM_011517045.2:c.32C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform X1 XP_011515347.1:p.Ser11Ter S (Ser) > * (Ter) Stop Gained
NBN transcript variant X3 XM_011517046.2:c.278C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform X2 XP_011515348.1:p.Ser93Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant X3 XM_011517046.2:c.278C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform X2 XP_011515348.1:p.Ser93Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant X3 XM_011517046.2:c.278C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform X2 XP_011515348.1:p.Ser93Ter S (Ser) > * (Ter) Stop Gained
NBN transcript variant X5 XM_047421796.1:c.278C>T S [TCG] > L [TTG] Coding Sequence Variant
nibrin isoform X4 XP_047277752.1:p.Ser93Leu S (Ser) > L (Leu) Missense Variant
NBN transcript variant X5 XM_047421796.1:c.278C>G S [TCG] > W [TGG] Coding Sequence Variant
nibrin isoform X4 XP_047277752.1:p.Ser93Trp S (Ser) > W (Trp) Missense Variant
NBN transcript variant X5 XM_047421796.1:c.278C>A S [TCG] > * [TAG] Coding Sequence Variant
nibrin isoform X4 XP_047277752.1:p.Ser93Ter S (Ser) > * (Ter) Stop Gained
Help

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: 151941 )
ClinVar Accession Disease Names Clinical Significance
RCV000131226.13 Hereditary cancer-predisposing syndrome Conflicting-Interpretations-Of-Pathogenicity
RCV000168344.18 Microcephaly, normal intelligence and immunodeficiency Conflicting-Interpretations-Of-Pathogenicity
RCV000193311.10 not specified Conflicting-Interpretations-Of-Pathogenicity
RCV000586867.6 not provided Likely-Benign
RCV001354986.2 Malignant tumor of breast Uncertain-Significance
Allele: T (allele ID: 1374459 )
ClinVar Accession Disease Names Clinical Significance
RCV001884264.1 Microcephaly, normal intelligence and immunodeficiency Pathogenic
Help

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 C T
GRCh38.p14 chr 8 NC_000008.11:g.89981417= NC_000008.11:g.89981417G>A NC_000008.11:g.89981417G>C NC_000008.11:g.89981417G>T
GRCh37.p13 chr 8 NC_000008.10:g.90993645= NC_000008.10:g.90993645G>A NC_000008.10:g.90993645G>C NC_000008.10:g.90993645G>T
NBN RefSeqGene (LRG_158) NG_008860.1:g.8255= NG_008860.1:g.8255C>T NG_008860.1:g.8255C>G NG_008860.1:g.8255C>A
NBN transcript variant 1 NM_002485.5:c.278= NM_002485.5:c.278C>T NM_002485.5:c.278C>G NM_002485.5:c.278C>A
NBN transcript variant 1 NM_002485.4:c.278= NM_002485.4:c.278C>T NM_002485.4:c.278C>G NM_002485.4:c.278C>A
NBN transcript variant 2 NM_001024688.3:c.32= NM_001024688.3:c.32C>T NM_001024688.3:c.32C>G NM_001024688.3:c.32C>A
NBN transcript variant 2 NM_001024688.2:c.32= NM_001024688.2:c.32C>T NM_001024688.2:c.32C>G NM_001024688.2:c.32C>A
NBN transcript variant 2 NM_001024688.1:c.32= NM_001024688.1:c.32C>T NM_001024688.1:c.32C>G NM_001024688.1:c.32C>A
NBN transcript variant X2 XM_011517045.2:c.32= XM_011517045.2:c.32C>T XM_011517045.2:c.32C>G XM_011517045.2:c.32C>A
NBN transcript variant X2 XM_011517045.1:c.32= XM_011517045.1:c.32C>T XM_011517045.1:c.32C>G XM_011517045.1:c.32C>A
NBN transcript variant X1 XM_024447163.2:c.32= XM_024447163.2:c.32C>T XM_024447163.2:c.32C>G XM_024447163.2:c.32C>A
NBN transcript variant X1 XM_024447163.1:c.32= XM_024447163.1:c.32C>T XM_024447163.1:c.32C>G XM_024447163.1:c.32C>A
NBN transcript variant X3 XM_011517046.2:c.278= XM_011517046.2:c.278C>T XM_011517046.2:c.278C>G XM_011517046.2:c.278C>A
NBN transcript variant X4 XM_011517046.1:c.278= XM_011517046.1:c.278C>T XM_011517046.1:c.278C>G XM_011517046.1:c.278C>A
NBN transcript variant X5 XM_047421796.1:c.278= XM_047421796.1:c.278C>T XM_047421796.1:c.278C>G XM_047421796.1:c.278C>A
nibrin isoform 1 NP_002476.2:p.Ser93= NP_002476.2:p.Ser93Leu NP_002476.2:p.Ser93Trp NP_002476.2:p.Ser93Ter
nibrin isoform 2 NP_001019859.1:p.Ser11= NP_001019859.1:p.Ser11Leu NP_001019859.1:p.Ser11Trp NP_001019859.1:p.Ser11Ter
nibrin isoform X1 XP_011515347.1:p.Ser11= XP_011515347.1:p.Ser11Leu XP_011515347.1:p.Ser11Trp XP_011515347.1:p.Ser11Ter
nibrin isoform X1 XP_024302931.1:p.Ser11= XP_024302931.1:p.Ser11Leu XP_024302931.1:p.Ser11Trp XP_024302931.1:p.Ser11Ter
nibrin isoform X2 XP_011515348.1:p.Ser93= XP_011515348.1:p.Ser93Leu XP_011515348.1:p.Ser93Trp XP_011515348.1:p.Ser93Ter
nibrin isoform X4 XP_047277752.1:p.Ser93= XP_047277752.1:p.Ser93Leu XP_047277752.1:p.Ser93Trp XP_047277752.1:p.Ser93Ter
Help

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#.

36 SubSNP, 9 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 DPSTEENSMA ss20421420 Apr 05, 2004 (121)
2 ICRHOULSTON ss49785900 Mar 15, 2006 (126)
3 NHLBI-ESP ss342260971 May 09, 2011 (134)
4 EXOME_CHIP ss491414993 May 04, 2012 (137)
5 ILLUMINA ss780871181 Sep 08, 2015 (146)
6 ILLUMINA ss783556268 Sep 08, 2015 (146)
7 1000GENOMES ss1330889376 Aug 21, 2014 (142)
8 CLINVAR ss1457621085 Nov 23, 2014 (142)
9 EVA_EXAC ss1689248399 Apr 01, 2015 (144)
10 ILLUMINA ss1752745831 Sep 08, 2015 (146)
11 ILLUMINA ss1917829965 Feb 12, 2016 (147)
12 ILLUMINA ss1946241382 Feb 12, 2016 (147)
13 ILLUMINA ss1959126060 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2305269660 Dec 20, 2016 (150)
15 GNOMAD ss2737239684 Nov 08, 2017 (151)
16 ILLUMINA ss3022862773 Nov 08, 2017 (151)
17 ILLUMINA ss3630107660 Oct 12, 2018 (152)
18 ILLUMINA ss3635180466 Oct 12, 2018 (152)
19 ILLUMINA ss3640887758 Oct 12, 2018 (152)
20 ILLUMINA ss3644974627 Oct 12, 2018 (152)
21 ILLUMINA ss3653407721 Oct 12, 2018 (152)
22 ILLUMINA ss3726553369 Jul 13, 2019 (153)
23 ILLUMINA ss3744581572 Jul 13, 2019 (153)
24 ILLUMINA ss3745480336 Jul 13, 2019 (153)
25 PAGE_CC ss3771454662 Jul 13, 2019 (153)
26 ILLUMINA ss3772972726 Jul 13, 2019 (153)
27 EVA ss3824380217 Apr 26, 2020 (154)
28 GNOMAD ss4188930943 Apr 26, 2021 (155)
29 TOPMED ss4795222074 Apr 26, 2021 (155)
30 1000G_HIGH_COVERAGE ss5278048544 Oct 16, 2022 (156)
31 EVA ss5382807983 Oct 16, 2022 (156)
32 1000G_HIGH_COVERAGE ss5568903653 Oct 16, 2022 (156)
33 EVA ss5848182877 Oct 16, 2022 (156)
34 EVA ss5889998897 Oct 16, 2022 (156)
35 EVA ss5935935720 Oct 16, 2022 (156)
36 EVA ss5975132314 Oct 16, 2022 (156)
37 1000Genomes NC_000008.10 - 90993645 Oct 12, 2018 (152)
38 1000Genomes_30x NC_000008.11 - 89981417 Oct 16, 2022 (156)
39 ExAC NC_000008.10 - 90993645 Oct 12, 2018 (152)
40 gnomAD - Genomes NC_000008.11 - 89981417 Apr 26, 2021 (155)
41 gnomAD - Exomes NC_000008.10 - 90993645 Jul 13, 2019 (153)
42 GO Exome Sequencing Project NC_000008.10 - 90993645 Oct 12, 2018 (152)
43 The PAGE Study NC_000008.11 - 89981417 Jul 13, 2019 (153)
44 TopMed NC_000008.11 - 89981417 Apr 26, 2021 (155)
45 ALFA NC_000008.11 - 89981417 Apr 26, 2021 (155)
46 ClinVar RCV000131226.13 Oct 16, 2022 (156)
47 ClinVar RCV000168344.18 Oct 16, 2022 (156)
48 ClinVar RCV000193311.10 Oct 16, 2022 (156)
49 ClinVar RCV000586867.6 Oct 16, 2022 (156)
50 ClinVar RCV001354986.2 Oct 16, 2022 (156)
51 ClinVar RCV001884264.1 Oct 16, 2022 (156)
Help

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
43050799, 9353174, 6412134, 838054, ss342260971, ss491414993, ss780871181, ss783556268, ss1330889376, ss1689248399, ss1752745831, ss1917829965, ss1946241382, ss1959126060, ss2737239684, ss3022862773, ss3630107660, ss3635180466, ss3640887758, ss3644974627, ss3653407721, ss3744581572, ss3745480336, ss3772972726, ss3824380217, ss5382807983, ss5848182877, ss5935935720, ss5975132314 NC_000008.10:90993644:G:A NC_000008.11:89981416:G:A (self)
RCV000131226.13, RCV000168344.18, RCV000193311.10, RCV000586867.6, RCV001354986.2, 56429588, 303623671, 676131, 632599634, 2939725598, ss1457621085, ss2305269660, ss3726553369, ss3771454662, ss4188930943, ss4795222074, ss5278048544, ss5568903653, ss5889998897 NC_000008.11:89981416:G:A NC_000008.11:89981416:G:A (self)
ss20421420, ss49785900 NT_008046.16:4267193:G:A NC_000008.11:89981416:G:A (self)
ss5935935720 NC_000008.10:90993644:G:C NC_000008.11:89981416:G:C
RCV001884264.1 NC_000008.11:89981416:G:T NC_000008.11:89981416:G:T
Help

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

1 citation for rs12721593
PMID Title Author Year Journal
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
Help

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.

Software version is: 2.0.1.post820+afb47a3d