Name: rs8110231
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.

rs8110231

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:35905132 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.081382 (21541/264690, TOPMED)
T=0.074878 (10495/140162, GnomAD)
T=0.04029 (1363/33828, ALFA) (+ 17 more)
T=0.10960 (3097/28258, 14KJPN)
T=0.10638 (1783/16760, 8.3KJPN)
T=0.0957 (613/6404, 1000G_30x)
T=0.0933 (467/5008, 1000G)
T=0.0089 (40/4480, Estonian)
T=0.0114 (44/3854, ALSPAC)
T=0.0129 (48/3708, TWINSUK)
T=0.1072 (314/2930, KOREAN)
T=0.1327 (250/1884, HapMap)
T=0.1070 (196/1832, Korea1K)
T=0.008 (8/998, GoNL)
T=0.005 (3/600, NorthernSweden)
T=0.083 (18/216, Qatari)
T=0.116 (25/216, Vietnamese)
C=0.38 (30/80, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TYROBP : Intron 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	33828	C=0.95971	T=0.04029	0.925742	0.006326	0.067932	32
European	Sub	26416	C=0.98766	T=0.01234	0.975469	0.000151	0.024379	0
African	Sub	4312	C=0.7955	T=0.2045	0.6359	0.044991	0.319109	0
African Others	Sub	158	C=0.785	T=0.215	0.607595	0.037975	0.35443	0
African American	Sub	4154	C=0.7959	T=0.2041	0.636976	0.045258	0.317766	1
Asian	Sub	136	C=0.934	T=0.066	0.882353	0.014706	0.102941	1
East Asian	Sub	108	C=0.944	T=0.056	0.888889	0.0	0.111111	0
Other Asian	Sub	28	C=0.89	T=0.11	0.857143	0.071429	0.071429	3
Latin American 1	Sub	182	C=0.857	T=0.143	0.725275	0.010989	0.263736	0
Latin American 2	Sub	754	C=0.972	T=0.028	0.944297	0.0	0.055703	0
South Asian	Sub	114	C=0.965	T=0.035	0.929825	0.0	0.070175	0
Other	Sub	1914	C=0.9504	T=0.0496	0.907001	0.00627	0.086729	4

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	C=0.918618	T=0.081382
gnomAD - Genomes	Global	Study-wide	140162	C=0.925122	T=0.074878
gnomAD - Genomes	European	Sub	75944	C=0.98906	T=0.01094
gnomAD - Genomes	African	Sub	41980	C=0.79359	T=0.20641
gnomAD - Genomes	American	Sub	13636	C=0.96817	T=0.03183
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.9648	T=0.0352
gnomAD - Genomes	East Asian	Sub	3124	C=0.8972	T=0.1028
gnomAD - Genomes	Other	Sub	2154	C=0.9410	T=0.0590
Allele Frequency Aggregator	Total	Global	33828	C=0.95971	T=0.04029
Allele Frequency Aggregator	European	Sub	26416	C=0.98766	T=0.01234
Allele Frequency Aggregator	African	Sub	4312	C=0.7955	T=0.2045
Allele Frequency Aggregator	Other	Sub	1914	C=0.9504	T=0.0496
Allele Frequency Aggregator	Latin American 2	Sub	754	C=0.972	T=0.028
Allele Frequency Aggregator	Latin American 1	Sub	182	C=0.857	T=0.143
Allele Frequency Aggregator	Asian	Sub	136	C=0.934	T=0.066
Allele Frequency Aggregator	South Asian	Sub	114	C=0.965	T=0.035
14KJPN	JAPANESE	Study-wide	28258	C=0.89040	T=0.10960
8.3KJPN	JAPANESE	Study-wide	16760	C=0.89362	T=0.10638
1000Genomes_30x	Global	Study-wide	6404	C=0.9043	T=0.0957
1000Genomes_30x	African	Sub	1786	C=0.7777	T=0.2223
1000Genomes_30x	Europe	Sub	1266	C=0.9913	T=0.0087
1000Genomes_30x	South Asian	Sub	1202	C=0.9542	T=0.0458
1000Genomes_30x	East Asian	Sub	1170	C=0.8966	T=0.1034
1000Genomes_30x	American	Sub	980	C=0.970	T=0.030
1000Genomes	Global	Study-wide	5008	C=0.9067	T=0.0933
1000Genomes	African	Sub	1322	C=0.7821	T=0.2179
1000Genomes	East Asian	Sub	1008	C=0.8998	T=0.1002
1000Genomes	Europe	Sub	1006	C=0.9911	T=0.0089
1000Genomes	South Asian	Sub	978	C=0.953	T=0.047
1000Genomes	American	Sub	694	C=0.967	T=0.033
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9911	T=0.0089
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9886	T=0.0114
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9871	T=0.0129
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8928	T=0.1072
HapMap	Global	Study-wide	1884	C=0.8673	T=0.1327
HapMap	American	Sub	768	C=0.931	T=0.069
HapMap	African	Sub	688	C=0.756	T=0.244
HapMap	Asian	Sub	252	C=0.889	T=0.111
HapMap	Europe	Sub	176	C=0.994	T=0.006
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8930	T=0.1070
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.992	T=0.008
Northern Sweden	ACPOP	Study-wide	600	C=0.995	T=0.005
Qatari	Global	Study-wide	216	C=0.917	T=0.083
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.884	T=0.116
SGDP_PRJ	Global	Study-wide	80	C=0.38	T=0.62
Siberian	Global	Study-wide	4	C=0.5	T=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 19	NC_000019.10:g.35905132C>T
GRCh37.p13 chr 19	NC_000019.9:g.36396034C>T
TYROBP RefSeqGene (LRG_607)	NG_009304.1:g.8153G>A

Gene: TYROBP, transmembrane immune signaling adaptor TYROBP (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TYROBP transcript variant 3	NM_001173514.2:c.244-498G… NM_001173514.2:c.244-498G>A	N/A	Intron Variant
TYROBP transcript variant 4	NM_001173515.2:c.241-498G… NM_001173515.2:c.241-498G>A	N/A	Intron Variant
TYROBP transcript variant 1	NM_003332.4:c.277-498G>A	N/A	Intron Variant
TYROBP transcript variant 2	NM_198125.3:c.274-498G>A	N/A	Intron Variant
TYROBP transcript variant 5	NR_033390.2:n.	N/A	Intron 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.

Not Reported in ClinVar

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	C=	T
GRCh38.p14 chr 19	NC_000019.10:g.35905132=	NC_000019.10:g.35905132C>T
GRCh37.p13 chr 19	NC_000019.9:g.36396034=	NC_000019.9:g.36396034C>T
TYROBP RefSeqGene (LRG_607)	NG_009304.1:g.8153=	NG_009304.1:g.8153G>A
TYROBP transcript variant 3	NM_001173514.1:c.244-498=	NM_001173514.1:c.244-498G>A
TYROBP transcript variant 3	NM_001173514.2:c.244-498=	NM_001173514.2:c.244-498G>A
TYROBP transcript variant 4	NM_001173515.1:c.241-498=	NM_001173515.1:c.241-498G>A
TYROBP transcript variant 4	NM_001173515.2:c.241-498=	NM_001173515.2:c.241-498G>A
TYROBP transcript variant 1	NM_003332.3:c.277-498=	NM_003332.3:c.277-498G>A
TYROBP transcript variant 1	NM_003332.4:c.277-498=	NM_003332.4:c.277-498G>A
TYROBP transcript variant 2	NM_198125.2:c.274-498=	NM_198125.2:c.274-498G>A
TYROBP transcript variant 2	NM_198125.3:c.274-498=	NM_198125.3:c.274-498G>A

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#.

61 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12467967	Jul 11, 2003 (116)
2	ILLUMINA	ss75018749	Dec 07, 2007 (129)
3	BGI	ss103436801	Dec 01, 2009 (131)
4	KRIBB_YJKIM	ss119585038	Dec 01, 2009 (131)
5	GMI	ss155869833	Dec 01, 2009 (131)
6	ILLUMINA	ss174722897	Jul 04, 2010 (132)
7	BUSHMAN	ss203745862	Jul 04, 2010 (132)
8	1000GENOMES	ss228128897	Jul 14, 2010 (132)
9	1000GENOMES	ss243876469	Jul 15, 2010 (132)
10	GMI	ss283199521	May 04, 2012 (137)
11	ILLUMINA	ss482336332	May 04, 2012 (137)
12	ILLUMINA	ss483823152	May 04, 2012 (137)
13	ILLUMINA	ss534603327	Sep 08, 2015 (146)
14	TISHKOFF	ss565967007	Apr 25, 2013 (138)
15	SSMP	ss661829055	Apr 25, 2013 (138)
16	ILLUMINA	ss779358465	Sep 08, 2015 (146)
17	ILLUMINA	ss781727942	Sep 08, 2015 (146)
18	ILLUMINA	ss834826602	Sep 08, 2015 (146)
19	EVA-GONL	ss994272556	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1081886029	Aug 21, 2014 (142)
21	1000GENOMES	ss1363060336	Aug 21, 2014 (142)
22	EVA_UK10K_ALSPAC	ss1637917630	Apr 01, 2015 (144)
23	EVA_UK10K_TWINSUK	ss1680911663	Apr 01, 2015 (144)
24	EVA_DECODE	ss1698326239	Apr 01, 2015 (144)
25	EVA_SVP	ss1713661121	Apr 01, 2015 (144)
26	HAMMER_LAB	ss1809295450	Sep 08, 2015 (146)
27	WEILL_CORNELL_DGM	ss1937766295	Feb 12, 2016 (147)
28	JJLAB	ss2029661168	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2158200065	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2225558526	Dec 20, 2016 (150)
31	SYSTEMSBIOZJU	ss2629327909	Nov 08, 2017 (151)
32	ILLUMINA	ss2633537236	Nov 08, 2017 (151)
33	GRF	ss2702808768	Nov 08, 2017 (151)
34	GNOMAD	ss2962545703	Nov 08, 2017 (151)
35	SWEGEN	ss3017423666	Nov 08, 2017 (151)
36	ILLUMINA	ss3627926341	Oct 12, 2018 (152)
37	ILLUMINA	ss3631508878	Oct 12, 2018 (152)
38	ILLUMINA	ss3638225517	Oct 12, 2018 (152)
39	ILLUMINA	ss3643198616	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3684198771	Jul 13, 2019 (153)
41	EVA_DECODE	ss3702713816	Jul 13, 2019 (153)
42	ACPOP	ss3743015281	Jul 13, 2019 (153)
43	EVA	ss3756032735	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3821280391	Jul 13, 2019 (153)
45	EVA	ss3835449286	Apr 27, 2020 (154)
46	SGDP_PRJ	ss3888159113	Apr 27, 2020 (154)
47	KRGDB	ss3938254666	Apr 27, 2020 (154)
48	KOGIC	ss3981283020	Apr 27, 2020 (154)
49	EVA	ss4017823424	Apr 26, 2021 (155)
50	TOPMED	ss5073913997	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5227618230	Apr 26, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5307149173	Oct 16, 2022 (156)
53	EVA	ss5315973222	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5499688523	Oct 16, 2022 (156)
55	1000G_HIGH_COVERAGE	ss5612836638	Oct 16, 2022 (156)
56	SANFORD_IMAGENETICS	ss5662337692	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5786205417	Oct 16, 2022 (156)
58	YY_MCH	ss5817575923	Oct 16, 2022 (156)
59	EVA	ss5840512668	Oct 16, 2022 (156)
60	EVA	ss5928000675	Oct 16, 2022 (156)
61	EVA	ss5953754001	Oct 16, 2022 (156)
62	1000Genomes	NC_000019.9 - 36396034	Oct 12, 2018 (152)
63	1000Genomes_30x	NC_000019.10 - 35905132	Oct 16, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 36396034	Oct 12, 2018 (152)
65	Genetic variation in the Estonian population	NC_000019.9 - 36396034	Oct 12, 2018 (152)
66	gnomAD - Genomes	NC_000019.10 - 35905132	Apr 26, 2021 (155)
67	Genome of the Netherlands Release 5	NC_000019.9 - 36396034	Apr 27, 2020 (154)
68	HapMap	NC_000019.10 - 35905132	Apr 27, 2020 (154)
69	KOREAN population from KRGDB	NC_000019.9 - 36396034	Apr 27, 2020 (154)
70	Korean Genome Project	NC_000019.10 - 35905132	Apr 27, 2020 (154)
71	Northern Sweden	NC_000019.9 - 36396034	Jul 13, 2019 (153)
72	Qatari	NC_000019.9 - 36396034	Apr 27, 2020 (154)
73	SGDP_PRJ	NC_000019.9 - 36396034	Apr 27, 2020 (154)
74	Siberian	NC_000019.9 - 36396034	Apr 27, 2020 (154)
75	8.3KJPN	NC_000019.9 - 36396034	Apr 26, 2021 (155)
76	14KJPN	NC_000019.10 - 35905132	Oct 16, 2022 (156)
77	TopMed	NC_000019.10 - 35905132	Apr 26, 2021 (155)
78	UK 10K study - Twins	NC_000019.9 - 36396034	Oct 12, 2018 (152)
79	A Vietnamese Genetic Variation Database	NC_000019.9 - 36396034	Jul 13, 2019 (153)
80	ALFA	NC_000019.10 - 35905132	Apr 26, 2021 (155)

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
ss203745862, ss283199521, ss483823152, ss1698326239, ss1713661121, ss3643198616	NC_000019.8:41087873:C:T	NC_000019.10:35905131:C:T	(self)
76463481, 42353247, 29937019, 18867915, 45432060, 16300146, 19808217, 40176093, 10716419, 85587537, 42353247, 9356169, ss228128897, ss243876469, ss482336332, ss534603327, ss565967007, ss661829055, ss779358465, ss781727942, ss834826602, ss994272556, ss1081886029, ss1363060336, ss1637917630, ss1680911663, ss1809295450, ss1937766295, ss2029661168, ss2158200065, ss2629327909, ss2633537236, ss2702808768, ss2962545703, ss3017423666, ss3627926341, ss3631508878, ss3638225517, ss3684198771, ss3743015281, ss3756032735, ss3835449286, ss3888159113, ss3938254666, ss4017823424, ss5227618230, ss5315973222, ss5662337692, ss5840512668, ss5953754001	NC_000019.9:36396033:C:T	NC_000019.10:35905131:C:T	(self)
100362573, 539253232, 1692503, 37661021, 120042521, 289459661, 73856916, ss2225558526, ss3702713816, ss3821280391, ss3981283020, ss5073913997, ss5307149173, ss5499688523, ss5612836638, ss5786205417, ss5817575923, ss5928000675	NC_000019.10:35905131:C:T	NC_000019.10:35905131:C:T	(self)
ss12467967	NT_011109.15:8664251:C:T	NC_000019.10:35905131:C:T	(self)
ss75018749, ss103436801, ss119585038, ss155869833, ss174722897	NT_011109.16:8664251:C:T	NC_000019.10:35905131:C:T	(self)

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

1 citation for rs8110231

PMID	Title	Author	Year	Journal
19019460	No evidence for shared etiology in two demyelinative disorders, MS and PLOSL.	Sulonen AM et al.	2009	Journal of neuroimmunology

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

rs8110231