Name: rs2241493
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.

rs2241493

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:31070149 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.190785 (70267/368304, ALFA)
C=0.193509 (51220/264690, TOPMED)
C=0.193819 (48350/249460, GnomAD_exome) (+ 25 more)
C=0.200433 (28073/140062, GnomAD)
C=0.200947 (24266/120758, ExAC)
C=0.18220 (14339/78700, PAGE_STUDY)
C=0.13129 (3710/28258, 14KJPN)
C=0.13180 (2209/16760, 8.3KJPN)
C=0.20736 (2551/12302, GO-ESP)
C=0.2038 (1305/6404, 1000G_30x)
C=0.2091 (1047/5008, 1000G)
C=0.1746 (782/4480, Estonian)
C=0.1876 (723/3854, ALSPAC)
C=0.1858 (689/3708, TWINSUK)
C=0.0713 (209/2930, KOREAN)
C=0.1867 (389/2084, HGDP_Stanford)
C=0.2169 (410/1890, HapMap)
C=0.2853 (323/1132, Daghestan)
C=0.200 (200/998, GoNL)
C=0.058 (46/790, PRJEB37584)
C=0.049 (30/612, Vietnamese)
C=0.212 (127/600, NorthernSweden)
C=0.178 (95/534, MGP)
C=0.141 (74/526, SGDP_PRJ)
C=0.333 (72/216, Qatari)
C=0.11 (10/88, Ancient Sardinia)
C=0.24 (13/54, Siberian)
C=0.20 (8/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TRPM1 : Missense Variant
Publications: 5 citations
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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	384798	C=0.191334	T=0.808666
European	Sub	323502	C=0.190697	T=0.809303
African	Sub	16522	C=0.24585	T=0.75415
African Others	Sub	590	C=0.237	T=0.763
African American	Sub	15932	C=0.24617	T=0.75383
Asian	Sub	6974	C=0.0740	T=0.9260
East Asian	Sub	5006	C=0.0633	T=0.9367
Other Asian	Sub	1968	C=0.1011	T=0.8989
Latin American 1	Sub	1474	C=0.2327	T=0.7673
Latin American 2	Sub	7192	C=0.0994	T=0.9006
South Asian	Sub	5226	C=0.3479	T=0.6521
Other	Sub	23908	C=0.18738	T=0.81262

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
Allele Frequency Aggregator	Total	Global	368304	C=0.190785	T=0.809215
Allele Frequency Aggregator	European	Sub	313296	C=0.190848	T=0.809152
Allele Frequency Aggregator	Other	Sub	22458	C=0.18675	T=0.81325
Allele Frequency Aggregator	African	Sub	11684	C=0.24726	T=0.75274
Allele Frequency Aggregator	Latin American 2	Sub	7192	C=0.0994	T=0.9006
Allele Frequency Aggregator	Asian	Sub	6974	C=0.0740	T=0.9260
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.3479	T=0.6521
Allele Frequency Aggregator	Latin American 1	Sub	1474	C=0.2327	T=0.7673
TopMed	Global	Study-wide	264690	C=0.193509	T=0.806491
gnomAD - Exomes	Global	Study-wide	249460	C=0.193819	T=0.806181
gnomAD - Exomes	European	Sub	134752	C=0.196561	T=0.803439
gnomAD - Exomes	Asian	Sub	48580	C=0.24296	T=0.75704
gnomAD - Exomes	American	Sub	34520	C=0.08925	T=0.91075
gnomAD - Exomes	African	Sub	15484	C=0.24625	T=0.75375
gnomAD - Exomes	Ashkenazi Jewish	Sub	10066	C=0.19402	T=0.80598
gnomAD - Exomes	Other	Sub	6058	C=0.2002	T=0.7998
gnomAD - Genomes	Global	Study-wide	140062	C=0.200433	T=0.799567
gnomAD - Genomes	European	Sub	75880	C=0.19477	T=0.80523
gnomAD - Genomes	African	Sub	41944	C=0.24471	T=0.75529
gnomAD - Genomes	American	Sub	13646	C=0.13476	T=0.86524
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.1863	T=0.8137
gnomAD - Genomes	East Asian	Sub	3130	C=0.0601	T=0.9399
gnomAD - Genomes	Other	Sub	2144	C=0.1796	T=0.8204
ExAC	Global	Study-wide	120758	C=0.200947	T=0.799053
ExAC	Europe	Sub	73348	C=0.19521	T=0.80479
ExAC	Asian	Sub	25136	C=0.25275	T=0.74725
ExAC	American	Sub	11574	C=0.08173	T=0.91827
ExAC	African	Sub	9800	C=0.2507	T=0.7493
ExAC	Other	Sub	900	C=0.213	T=0.787
The PAGE Study	Global	Study-wide	78700	C=0.18220	T=0.81780
The PAGE Study	AfricanAmerican	Sub	32514	C=0.24091	T=0.75909
The PAGE Study	Mexican	Sub	10810	C=0.10564	T=0.89436
The PAGE Study	Asian	Sub	8318	C=0.1264	T=0.8736
The PAGE Study	PuertoRican	Sub	7918	C=0.1798	T=0.8202
The PAGE Study	NativeHawaiian	Sub	4534	C=0.0763	T=0.9237
The PAGE Study	Cuban	Sub	4230	C=0.1766	T=0.8234
The PAGE Study	Dominican	Sub	3828	C=0.1925	T=0.8075
The PAGE Study	CentralAmerican	Sub	2450	C=0.1208	T=0.8792
The PAGE Study	SouthAmerican	Sub	1982	C=0.1160	T=0.8840
The PAGE Study	NativeAmerican	Sub	1260	C=0.1730	T=0.8270
The PAGE Study	SouthAsian	Sub	856	C=0.368	T=0.632
14KJPN	JAPANESE	Study-wide	28258	C=0.13129	T=0.86871
8.3KJPN	JAPANESE	Study-wide	16760	C=0.13180	T=0.86820
GO Exome Sequencing Project	Global	Study-wide	12302	C=0.20736	T=0.79264
GO Exome Sequencing Project	European American	Sub	8336	C=0.1892	T=0.8108
GO Exome Sequencing Project	African American	Sub	3966	C=0.2456	T=0.7544
1000Genomes_30x	Global	Study-wide	6404	C=0.2038	T=0.7962
1000Genomes_30x	African	Sub	1786	C=0.2497	T=0.7503
1000Genomes_30x	Europe	Sub	1266	C=0.1912	T=0.8088
1000Genomes_30x	South Asian	Sub	1202	C=0.3569	T=0.6431
1000Genomes_30x	East Asian	Sub	1170	C=0.0641	T=0.9359
1000Genomes_30x	American	Sub	980	C=0.115	T=0.885
1000Genomes	Global	Study-wide	5008	C=0.2091	T=0.7909
1000Genomes	African	Sub	1322	C=0.2595	T=0.7405
1000Genomes	East Asian	Sub	1008	C=0.0704	T=0.9296
1000Genomes	Europe	Sub	1006	C=0.1918	T=0.8082
1000Genomes	South Asian	Sub	978	C=0.372	T=0.628
1000Genomes	American	Sub	694	C=0.110	T=0.890
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.1746	T=0.8254
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.1876	T=0.8124
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1858	T=0.8142
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0713	A=0.0000, G=0.0000, T=0.9287
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.1867	T=0.8133
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.109	T=0.891
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.263	T=0.737
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.266	T=0.734
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.163	T=0.838
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.281	T=0.719
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.005	T=0.995
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.21	T=0.79
HapMap	Global	Study-wide	1890	C=0.2169	T=0.7831
HapMap	American	Sub	770	C=0.200	T=0.800
HapMap	African	Sub	690	C=0.288	T=0.712
HapMap	Asian	Sub	254	C=0.126	T=0.874
HapMap	Europe	Sub	176	C=0.142	T=0.858
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	C=0.2853	T=0.7147
Genome-wide autozygosity in Daghestan	Daghestan	Sub	624	C=0.312	T=0.688
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.222	T=0.778
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.238	T=0.762
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.176	T=0.824
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.35	T=0.65
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.39	T=0.61
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.200	T=0.800
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.058	T=0.942
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.058	T=0.942
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.049	T=0.951
Northern Sweden	ACPOP	Study-wide	600	C=0.212	T=0.788
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.178	T=0.822
SGDP_PRJ	Global	Study-wide	526	C=0.141	T=0.859
Qatari	Global	Study-wide	216	C=0.333	T=0.667
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	88	C=0.11	T=0.89
Siberian	Global	Study-wide	54	C=0.24	T=0.76
The Danish reference pan genome	Danish	Study-wide	40	C=0.20	T=0.80

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 15	NC_000015.10:g.31070149C>A
GRCh38.p14 chr 15	NC_000015.10:g.31070149C>G
GRCh38.p14 chr 15	NC_000015.10:g.31070149C>T
GRCh37.p13 chr 15	NC_000015.9:g.31362352C>A
GRCh37.p13 chr 15	NC_000015.9:g.31362352C>G
GRCh37.p13 chr 15	NC_000015.9:g.31362352C>T
TRPM1 RefSeqGene	NG_016453.2:g.96125G>T
TRPM1 RefSeqGene	NG_016453.2:g.96125G>C
TRPM1 RefSeqGene	NG_016453.2:g.96125G>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3243464T>C
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3243464T>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3243464T>G
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3355916T>C
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3355916T>A
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3355916T>G

Gene: TRPM1, transient receptor potential cation channel subfamily M member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRPM1 transcript variant 3	NM_001252024.2:c.161G>T	S [AGC] > I [ATC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 3	NP_001238953.1:p.Ser54Ile	S (Ser) > I (Ile)	Missense Variant
TRPM1 transcript variant 3	NM_001252024.2:c.161G>C	S [AGC] > T [ACC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 3	NP_001238953.1:p.Ser54Thr	S (Ser) > T (Thr)	Missense Variant
TRPM1 transcript variant 3	NM_001252024.2:c.161G>A	S [AGC] > N [AAC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 3	NP_001238953.1:p.Ser54Asn	S (Ser) > N (Asn)	Missense Variant
TRPM1 transcript variant 4	NM_001252030.2:c.95G>T	S [AGC] > I [ATC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 4	NP_001238959.1:p.Ser32Ile	S (Ser) > I (Ile)	Missense Variant
TRPM1 transcript variant 4	NM_001252030.2:c.95G>C	S [AGC] > T [ACC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 4	NP_001238959.1:p.Ser32Thr	S (Ser) > T (Thr)	Missense Variant
TRPM1 transcript variant 4	NM_001252030.2:c.95G>A	S [AGC] > N [AAC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 4	NP_001238959.1:p.Ser32Asn	S (Ser) > N (Asn)	Missense Variant
TRPM1 transcript variant 2	NM_002420.6:c.95G>T	S [AGC] > I [ATC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 2	NP_002411.3:p.Ser32Ile	S (Ser) > I (Ile)	Missense Variant
TRPM1 transcript variant 2	NM_002420.6:c.95G>C	S [AGC] > T [ACC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 2	NP_002411.3:p.Ser32Thr	S (Ser) > T (Thr)	Missense Variant
TRPM1 transcript variant 2	NM_002420.6:c.95G>A	S [AGC] > N [AAC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 2	NP_002411.3:p.Ser32Asn	S (Ser) > N (Asn)	Missense Variant
TRPM1 transcript variant 1	NM_001252020.2:c.212G>T	S [AGC] > I [ATC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 1	NP_001238949.1:p.Ser71Ile	S (Ser) > I (Ile)	Missense Variant
TRPM1 transcript variant 1	NM_001252020.2:c.212G>C	S [AGC] > T [ACC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 1	NP_001238949.1:p.Ser71Thr	S (Ser) > T (Thr)	Missense Variant
TRPM1 transcript variant 1	NM_001252020.2:c.212G>A	S [AGC] > N [AAC]	Coding Sequence Variant
transient receptor potential cation channel subfamily M member 1 isoform 1	NP_001238949.1:p.Ser71Asn	S (Ser) > N (Asn)	Missense 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: T (allele ID: 193504 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000177154.4	not specified	Benign
RCV000337949.6	Congenital stationary night blindness 1C	Benign
RCV001522998.6	not provided	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	C=	A	G	T
GRCh38.p14 chr 15	NC_000015.10:g.31070149=	NC_000015.10:g.31070149C>A	NC_000015.10:g.31070149C>G	NC_000015.10:g.31070149C>T
GRCh37.p13 chr 15	NC_000015.9:g.31362352=	NC_000015.9:g.31362352C>A	NC_000015.9:g.31362352C>G	NC_000015.9:g.31362352C>T
TRPM1 RefSeqGene	NG_016453.2:g.96125=	NG_016453.2:g.96125G>T	NG_016453.2:g.96125G>C	NG_016453.2:g.96125G>A
TRPM1 transcript variant 2	NM_002420.6:c.95=	NM_002420.6:c.95G>T	NM_002420.6:c.95G>C	NM_002420.6:c.95G>A
TRPM1 transcript variant 2	NM_002420.5:c.95=	NM_002420.5:c.95G>T	NM_002420.5:c.95G>C	NM_002420.5:c.95G>A
TRPM1 transcript variant 1	NM_001252020.2:c.212=	NM_001252020.2:c.212G>T	NM_001252020.2:c.212G>C	NM_001252020.2:c.212G>A
TRPM1 transcript variant 1	NM_001252020.1:c.212=	NM_001252020.1:c.212G>T	NM_001252020.1:c.212G>C	NM_001252020.1:c.212G>A
TRPM1 transcript variant 3	NM_001252024.2:c.161=	NM_001252024.2:c.161G>T	NM_001252024.2:c.161G>C	NM_001252024.2:c.161G>A
TRPM1 transcript variant 3	NM_001252024.1:c.161=	NM_001252024.1:c.161G>T	NM_001252024.1:c.161G>C	NM_001252024.1:c.161G>A
TRPM1 transcript variant 4	NM_001252030.2:c.95=	NM_001252030.2:c.95G>T	NM_001252030.2:c.95G>C	NM_001252030.2:c.95G>A
TRPM1 transcript variant 4	NM_001252030.1:c.95=	NM_001252030.1:c.95G>T	NM_001252030.1:c.95G>C	NM_001252030.1:c.95G>A
GRCh38.p14 chr 15 fix patch HG2139_PATCH	NW_011332701.1:g.3243464T>C	NW_011332701.1:g.3243464T>A	NW_011332701.1:g.3243464T>G	NW_011332701.1:g.3243464=
GRCh38.p14 chr 15 alt locus HSCHR15_4_CTG8	NT_187660.1:g.3355916T>C	NT_187660.1:g.3355916T>A	NT_187660.1:g.3355916T>G	NT_187660.1:g.3355916=
transient receptor potential cation channel subfamily M member 1 isoform 2	NP_002411.3:p.Ser32=	NP_002411.3:p.Ser32Ile	NP_002411.3:p.Ser32Thr	NP_002411.3:p.Ser32Asn
transient receptor potential cation channel subfamily M member 1 isoform 1	NP_001238949.1:p.Ser71=	NP_001238949.1:p.Ser71Ile	NP_001238949.1:p.Ser71Thr	NP_001238949.1:p.Ser71Asn
transient receptor potential cation channel subfamily M member 1 isoform 3	NP_001238953.1:p.Ser54=	NP_001238953.1:p.Ser54Ile	NP_001238953.1:p.Ser54Thr	NP_001238953.1:p.Ser54Asn
transient receptor potential cation channel subfamily M member 1 isoform 4	NP_001238959.1:p.Ser32=	NP_001238959.1:p.Ser32Ile	NP_001238959.1:p.Ser32Thr	NP_001238959.1:p.Ser32Asn

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#.

181 SubSNP, 28 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3197449	Aug 15, 2001 (98)
2	WI_SSAHASNP	ss6594893	Feb 20, 2003 (111)
3	BCM_SSAHASNP	ss10771047	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss16667887	Feb 27, 2004 (120)
5	SSAHASNP	ss21252335	Apr 05, 2004 (121)
6	PERLEGEN	ss23661382	Sep 20, 2004 (123)
7	ILLUMINA	ss66556419	Dec 01, 2006 (127)
8	ILLUMINA	ss67236916	Dec 01, 2006 (127)
9	ILLUMINA	ss67633158	Dec 01, 2006 (127)
10	PERLEGEN	ss69171861	May 18, 2007 (127)
11	ILLUMINA	ss70715243	May 23, 2008 (130)
12	ILLUMINA	ss71283068	May 18, 2007 (127)
13	AFFY	ss74809348	Aug 16, 2007 (128)
14	ILLUMINA	ss75778372	Dec 07, 2007 (129)
15	ILLUMINA	ss79122704	Dec 14, 2007 (130)
16	KRIBB_YJKIM	ss84006002	Dec 14, 2007 (130)
17	HGSV	ss85469148	Dec 14, 2007 (130)
18	BCMHGSC_JDW	ss90108980	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss96747378	Feb 04, 2009 (130)
20	BGI	ss106419922	Feb 04, 2009 (130)
21	1000GENOMES	ss108705077	Jan 23, 2009 (130)
22	1000GENOMES	ss113973988	Jan 25, 2009 (130)
23	ILLUMINA-UK	ss118176278	Feb 14, 2009 (130)
24	ILLUMINA	ss121962934	Dec 01, 2009 (131)
25	ENSEMBL	ss134215649	Dec 01, 2009 (131)
26	ENSEMBL	ss136929015	Dec 01, 2009 (131)
27	ILLUMINA	ss153892248	Dec 01, 2009 (131)
28	GMI	ss156376024	Dec 01, 2009 (131)
29	ILLUMINA	ss159371555	Dec 01, 2009 (131)
30	SEATTLESEQ	ss159730292	Dec 01, 2009 (131)
31	ILLUMINA	ss160520263	Dec 01, 2009 (131)
32	COMPLETE_GENOMICS	ss167735822	Jul 04, 2010 (132)
33	COMPLETE_GENOMICS	ss169029697	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss170899943	Jul 04, 2010 (132)
35	ILLUMINA	ss171115776	Jul 04, 2010 (132)
36	ILLUMINA	ss173207412	Jul 04, 2010 (132)
37	BUSHMAN	ss200670910	Jul 04, 2010 (132)
38	BCM-HGSC-SUB	ss207265337	Jul 04, 2010 (132)
39	1000GENOMES	ss226820124	Jul 14, 2010 (132)
40	1000GENOMES	ss236727069	Jul 15, 2010 (132)
41	1000GENOMES	ss243124171	Jul 15, 2010 (132)
42	BL	ss254872162	May 09, 2011 (134)
43	GMI	ss282199444	May 04, 2012 (137)
44	GMI	ss286926946	Apr 25, 2013 (138)
45	PJP	ss291810567	May 09, 2011 (134)
46	ILLUMINA	ss480480599	May 04, 2012 (137)
47	ILLUMINA	ss480494958	May 04, 2012 (137)
48	ILLUMINA	ss481295386	Sep 08, 2015 (146)
49	ILLUMINA	ss485037790	May 04, 2012 (137)
50	1000GENOMES	ss491078846	May 04, 2012 (137)
51	EXOME_CHIP	ss491491657	May 04, 2012 (137)
52	CLINSEQ_SNP	ss491697196	May 04, 2012 (137)
53	ILLUMINA	ss537060440	Sep 08, 2015 (146)
54	TISHKOFF	ss564392997	Apr 25, 2013 (138)
55	SSMP	ss660107472	Apr 25, 2013 (138)
56	NHLBI-ESP	ss713215593	Apr 25, 2013 (138)
57	ILLUMINA	ss778487172	Sep 08, 2015 (146)
58	ILLUMINA	ss780706317	Sep 08, 2015 (146)
59	ILLUMINA	ss782965134	Sep 08, 2015 (146)
60	ILLUMINA	ss783380894	Sep 08, 2015 (146)
61	ILLUMINA	ss783926997	Sep 08, 2015 (146)
62	ILLUMINA	ss825453222	Jul 19, 2016 (147)
63	ILLUMINA	ss832221403	Sep 08, 2015 (146)
64	ILLUMINA	ss832883377	Jul 13, 2019 (153)
65	ILLUMINA	ss833943123	Sep 08, 2015 (146)
66	EVA-GONL	ss991640163	Aug 21, 2014 (142)
67	JMKIDD_LAB	ss1067550516	Aug 21, 2014 (142)
68	JMKIDD_LAB	ss1080014150	Aug 21, 2014 (142)
69	1000GENOMES	ss1352889940	Aug 21, 2014 (142)
70	HAMMER_LAB	ss1397692845	Sep 08, 2015 (146)
71	DDI	ss1427580304	Apr 01, 2015 (144)
72	EVA_GENOME_DK	ss1577532972	Apr 01, 2015 (144)
73	EVA_UK10K_ALSPAC	ss1632698514	Apr 01, 2015 (144)
74	EVA_UK10K_TWINSUK	ss1675692547	Apr 01, 2015 (144)
75	EVA_DECODE	ss1695651102	Apr 01, 2015 (144)
76	EVA_MGP	ss1711391268	Apr 01, 2015 (144)
77	EVA_SVP	ss1713478594	Apr 01, 2015 (144)
78	ILLUMINA	ss1752155134	Sep 08, 2015 (146)
79	ILLUMINA	ss1752155135	Sep 08, 2015 (146)
80	HAMMER_LAB	ss1808139047	Sep 08, 2015 (146)
81	ILLUMINA	ss1917893924	Feb 12, 2016 (147)
82	WEILL_CORNELL_DGM	ss1935042116	Feb 12, 2016 (147)
83	ILLUMINA	ss1946388917	Feb 12, 2016 (147)
84	ILLUMINA	ss1959598891	Feb 12, 2016 (147)
85	GENOMED	ss1968073676	Jul 19, 2016 (147)
86	JJLAB	ss2028299554	Sep 14, 2016 (149)
87	USC_VALOUEV	ss2156696487	Dec 20, 2016 (150)
88	HUMAN_LONGEVITY	ss2205624828	Dec 20, 2016 (150)
89	SYSTEMSBIOZJU	ss2628643257	Nov 08, 2017 (151)
90	ILLUMINA	ss2633210199	Nov 08, 2017 (151)
91	ILLUMINA	ss2635056616	Nov 08, 2017 (151)
92	GRF	ss2701159459	Nov 08, 2017 (151)
93	ILLUMINA	ss2710812073	Nov 08, 2017 (151)
94	GNOMAD	ss2749258065	Nov 08, 2017 (151)
95	AFFY	ss2985035584	Nov 08, 2017 (151)
96	SWEGEN	ss3013043551	Nov 08, 2017 (151)
97	ILLUMINA	ss3021617824	Nov 08, 2017 (151)
98	BIOINF_KMB_FNS_UNIBA	ss3027973123	Nov 08, 2017 (151)
99	CSHL	ss3351050248	Nov 08, 2017 (151)
100	ILLUMINA	ss3627326430	Oct 12, 2018 (152)
101	ILLUMINA	ss3627326431	Oct 12, 2018 (152)
102	ILLUMINA	ss3631204443	Oct 12, 2018 (152)
103	ILLUMINA	ss3633092097	Oct 12, 2018 (152)
104	ILLUMINA	ss3633796475	Oct 12, 2018 (152)
105	ILLUMINA	ss3634598655	Oct 12, 2018 (152)
106	ILLUMINA	ss3634598656	Oct 12, 2018 (152)
107	ILLUMINA	ss3635485527	Oct 12, 2018 (152)
108	ILLUMINA	ss3636289180	Oct 12, 2018 (152)
109	ILLUMINA	ss3637236760	Oct 12, 2018 (152)
110	ILLUMINA	ss3638076740	Oct 12, 2018 (152)
111	ILLUMINA	ss3639051740	Oct 12, 2018 (152)
112	ILLUMINA	ss3639530982	Oct 12, 2018 (152)
113	ILLUMINA	ss3640305980	Oct 12, 2018 (152)
114	ILLUMINA	ss3640305981	Oct 12, 2018 (152)
115	ILLUMINA	ss3643061445	Oct 12, 2018 (152)
116	ILLUMINA	ss3644642040	Oct 12, 2018 (152)
117	OMUKHERJEE_ADBS	ss3646471141	Oct 12, 2018 (152)
118	URBANLAB	ss3650321784	Oct 12, 2018 (152)
119	ILLUMINA	ss3652017241	Oct 12, 2018 (152)
120	ILLUMINA	ss3653807369	Oct 12, 2018 (152)
121	EGCUT_WGS	ss3680195928	Jul 13, 2019 (153)
122	EVA_DECODE	ss3697615401	Jul 13, 2019 (153)
123	ILLUMINA	ss3725485977	Jul 13, 2019 (153)
124	ACPOP	ss3740801835	Jul 13, 2019 (153)
125	ILLUMINA	ss3744417431	Jul 13, 2019 (153)
126	ILLUMINA	ss3744899212	Jul 13, 2019 (153)
127	ILLUMINA	ss3744899213	Jul 13, 2019 (153)
128	EVA	ss3752909842	Jul 13, 2019 (153)
129	PAGE_CC	ss3771819375	Jul 13, 2019 (153)
130	ILLUMINA	ss3772397925	Jul 13, 2019 (153)
131	ILLUMINA	ss3772397926	Jul 13, 2019 (153)
132	PACBIO	ss3787805181	Jul 13, 2019 (153)
133	PACBIO	ss3792823677	Jul 13, 2019 (153)
134	PACBIO	ss3797708130	Jul 13, 2019 (153)
135	KHV_HUMAN_GENOMES	ss3818227555	Jul 13, 2019 (153)
136	EVA	ss3824899211	Apr 27, 2020 (154)
137	EVA	ss3825855112	Apr 27, 2020 (154)
138	EVA	ss3834163642	Apr 27, 2020 (154)
139	EVA	ss3840679106	Apr 27, 2020 (154)
140	EVA	ss3846167555	Apr 27, 2020 (154)
141	HGDP	ss3847518651	Apr 27, 2020 (154)
142	SGDP_PRJ	ss3882606398	Apr 27, 2020 (154)
143	KRGDB	ss3931733970	Apr 27, 2020 (154)
144	FSA-LAB	ss3984068825	Apr 26, 2021 (155)
145	EVA	ss3984698860	Apr 26, 2021 (155)
146	EVA	ss3985707805	Apr 26, 2021 (155)
147	EVA	ss3986066573	Apr 26, 2021 (155)
148	EVA	ss3986640159	Apr 26, 2021 (155)
149	EVA	ss4017693840	Apr 26, 2021 (155)
150	VINODS	ss4032005624	Apr 26, 2021 (155)
151	TOPMED	ss4986312167	Apr 26, 2021 (155)
152	TOMMO_GENOMICS	ss5215514494	Apr 26, 2021 (155)
153	EVA	ss5236922026	Apr 26, 2021 (155)
154	EVA	ss5237229044	Apr 26, 2021 (155)
155	EVA	ss5237663622	Oct 16, 2022 (156)
156	1000G_HIGH_COVERAGE	ss5297933337	Oct 16, 2022 (156)
157	TRAN_CS_UWATERLOO	ss5314440463	Oct 16, 2022 (156)
158	EVA	ss5315772788	Oct 16, 2022 (156)
159	EVA	ss5418313516	Oct 16, 2022 (156)
160	HUGCELL_USP	ss5491724293	Oct 16, 2022 (156)
161	1000G_HIGH_COVERAGE	ss5599080432	Oct 16, 2022 (156)
162	EVA	ss5623963628	Oct 16, 2022 (156)
163	EVA	ss5624051008	Oct 16, 2022 (156)
164	SANFORD_IMAGENETICS	ss5624356627	Oct 16, 2022 (156)
165	SANFORD_IMAGENETICS	ss5657219546	Oct 16, 2022 (156)
166	TOMMO_GENOMICS	ss5769119780	Oct 16, 2022 (156)
167	EVA	ss5799933402	Oct 16, 2022 (156)
168	EVA	ss5800067683	Oct 16, 2022 (156)
169	EVA	ss5800191837	Oct 16, 2022 (156)
170	YY_MCH	ss5815207265	Oct 16, 2022 (156)
171	EVA	ss5828007901	Oct 16, 2022 (156)
172	EVA	ss5847446129	Oct 16, 2022 (156)
173	EVA	ss5847736750	Oct 16, 2022 (156)
174	EVA	ss5848397006	Oct 16, 2022 (156)
175	EVA	ss5851233266	Oct 16, 2022 (156)
176	EVA	ss5875305902	Oct 16, 2022 (156)
177	EVA	ss5936559717	Oct 16, 2022 (156)
178	EVA	ss5948617215	Oct 16, 2022 (156)
179	EVA	ss5979456070	Oct 16, 2022 (156)
180	EVA	ss5980860425	Oct 16, 2022 (156)
181	EVA	ss5981288120	Oct 16, 2022 (156)
182	1000Genomes	NC_000015.9 - 31362352	Oct 12, 2018 (152)
183	1000Genomes_30x	NC_000015.10 - 31070149	Oct 16, 2022 (156)
184	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 31362352	Oct 12, 2018 (152)
185	Genome-wide autozygosity in Daghestan	NC_000015.8 - 29149644	Apr 27, 2020 (154)
186	Genetic variation in the Estonian population	NC_000015.9 - 31362352	Oct 12, 2018 (152)
187	ExAC	NC_000015.9 - 31362352	Oct 12, 2018 (152)
188	The Danish reference pan genome	NC_000015.9 - 31362352	Apr 27, 2020 (154)
189	gnomAD - Genomes	NC_000015.10 - 31070149	Apr 26, 2021 (155)
190	gnomAD - Exomes	NC_000015.9 - 31362352	Jul 13, 2019 (153)
191	GO Exome Sequencing Project	NC_000015.9 - 31362352	Oct 12, 2018 (152)
192	Genome of the Netherlands Release 5	NC_000015.9 - 31362352	Apr 27, 2020 (154)
193	HGDP-CEPH-db Supplement 1	NC_000015.8 - 29149644	Apr 27, 2020 (154)
194	HapMap	NC_000015.10 - 31070149	Apr 27, 2020 (154)
195	KOREAN population from KRGDB	NC_000015.9 - 31362352	Apr 27, 2020 (154)
196	Medical Genome Project healthy controls from Spanish population	NC_000015.9 - 31362352	Apr 27, 2020 (154)
197	Northern Sweden	NC_000015.9 - 31362352	Jul 13, 2019 (153)
198	The PAGE Study	NC_000015.10 - 31070149	Jul 13, 2019 (153)
199	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000015.9 - 31362352	Apr 26, 2021 (155)
200	CNV burdens in cranial meningiomas	NC_000015.9 - 31362352	Apr 26, 2021 (155)
201	Qatari	NC_000015.9 - 31362352	Apr 27, 2020 (154)
202	SGDP_PRJ	NC_000015.9 - 31362352	Apr 27, 2020 (154)
203	Siberian	NC_000015.9 - 31362352	Apr 27, 2020 (154)
204	8.3KJPN	NC_000015.9 - 31362352	Apr 26, 2021 (155)
205	14KJPN	NC_000015.10 - 31070149	Oct 16, 2022 (156)
206	TopMed	NC_000015.10 - 31070149	Apr 26, 2021 (155)
207	UK 10K study - Twins	NC_000015.9 - 31362352	Oct 12, 2018 (152)
208	A Vietnamese Genetic Variation Database	NC_000015.9 - 31362352	Jul 13, 2019 (153)
209	ALFA	NC_000015.10 - 31070149	Apr 26, 2021 (155)
210	ClinVar	RCV000177154.4	Oct 16, 2022 (156)
211	ClinVar	RCV000337949.6	Oct 16, 2022 (156)
212	ClinVar	RCV001522998.6	Oct 16, 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).

Associated ID	History Updated (Build)
rs52793730	Sep 21, 2007 (128)
rs57170646	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
38911364, ss3931733970	NC_000015.9:31362351:C:A	NC_000015.10:31070148:C:A	(self)
38911364, ss3931733970	NC_000015.9:31362351:C:G	NC_000015.10:31070148:C:G	(self)
163062, 196543, ss85469148, ss90108980, ss108705077, ss113973988, ss118176278, ss167735822, ss169029697, ss170899943, ss200670910, ss207265337, ss254872162, ss282199444, ss286926946, ss291810567, ss480480599, ss491697196, ss825453222, ss1397692845, ss1695651102, ss1713478594, ss2635056616, ss3639051740, ss3639530982, ss3643061445, ss3847518651	NC_000015.8:29149643:C:T	NC_000015.10:31070148:C:T	(self)
65939739, 36605887, 25934176, 2096100, 3798954, 10351349, 1356501, 16353067, 38911364, 507028, 14086700, 933732, 248382, 17084046, 34623378, 9212841, 73483801, 36605887, 8144362, ss226820124, ss236727069, ss243124171, ss480494958, ss481295386, ss485037790, ss491078846, ss491491657, ss537060440, ss564392997, ss660107472, ss713215593, ss778487172, ss780706317, ss782965134, ss783380894, ss783926997, ss832221403, ss832883377, ss833943123, ss991640163, ss1067550516, ss1080014150, ss1352889940, ss1427580304, ss1577532972, ss1632698514, ss1675692547, ss1711391268, ss1752155134, ss1752155135, ss1808139047, ss1917893924, ss1935042116, ss1946388917, ss1959598891, ss1968073676, ss2028299554, ss2156696487, ss2628643257, ss2633210199, ss2701159459, ss2710812073, ss2749258065, ss2985035584, ss3013043551, ss3021617824, ss3351050248, ss3627326430, ss3627326431, ss3631204443, ss3633092097, ss3633796475, ss3634598655, ss3634598656, ss3635485527, ss3636289180, ss3637236760, ss3638076740, ss3640305980, ss3640305981, ss3644642040, ss3646471141, ss3652017241, ss3653807369, ss3680195928, ss3740801835, ss3744417431, ss3744899212, ss3744899213, ss3752909842, ss3772397925, ss3772397926, ss3787805181, ss3792823677, ss3797708130, ss3824899211, ss3825855112, ss3834163642, ss3840679106, ss3882606398, ss3931733970, ss3984068825, ss3984698860, ss3985707805, ss3986066573, ss3986640159, ss4017693840, ss5215514494, ss5315772788, ss5418313516, ss5623963628, ss5624051008, ss5624356627, ss5657219546, ss5799933402, ss5800067683, ss5800191837, ss5828007901, ss5847446129, ss5847736750, ss5848397006, ss5936559717, ss5948617215, ss5979456070, ss5980860425, ss5981288120	NC_000015.9:31362351:C:T	NC_000015.10:31070148:C:T	(self)
RCV000177154.4, RCV000337949.6, RCV001522998.6, 86606367, 464829573, 1234962, 1040844, 102956884, 201857827, 15188499673, ss2205624828, ss3027973123, ss3650321784, ss3697615401, ss3725485977, ss3771819375, ss3818227555, ss3846167555, ss4986312167, ss5236922026, ss5237229044, ss5237663622, ss5297933337, ss5314440463, ss5491724293, ss5599080432, ss5769119780, ss5815207265, ss5851233266, ss5875305902	NC_000015.10:31070148:C:T	NC_000015.10:31070148:C:T	(self)
ss10771047	NT_010194.15:2152908:C:T	NC_000015.10:31070148:C:T	(self)
ss16667887, ss21252335	NT_010194.16:2152908:C:T	NC_000015.10:31070148:C:T	(self)
ss3197449, ss6594893, ss23661382, ss66556419, ss67236916, ss67633158, ss69171861, ss70715243, ss71283068, ss74809348, ss75778372, ss79122704, ss84006002, ss96747378, ss106419922, ss121962934, ss134215649, ss136929015, ss153892248, ss156376024, ss159371555, ss159730292, ss160520263, ss171115776, ss173207412	NT_010194.17:2152908:C:T	NC_000015.10:31070148:C:T	(self)
ss4032005624	NT_187660.1:3355915:T:T	NC_000015.10:31070148:C:T	(self)

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

5 citations for rs2241493

PMID	Title	Author	Year	Journal
19878917	Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.	Li Z et al.	2009	American journal of human genetics
19896113	TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.	Audo I et al.	2009	American journal of human genetics
21439949	Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans.	Thameem F et al.	2011	Clinica chimica acta; international journal of clinical chemistry
24019741	Association transient receptor potential melastatin channel gene polymorphism with primary open angle glaucoma.	Okumus S et al.	2013	Molecular vision
36013279	Selecting Genetic Variants and Interactions Associated with Amyotrophic Lateral Sclerosis: A Group LASSO Approach.	Feronato SG et al.	2022	Journal of personalized medicine

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

rs2241493