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dbSNP Short Genetic Variations

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.

rs9341358

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:71974211 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.399641 (105781/264690, TOPMED)
C=0.401060 (56097/139872, GnomAD)
C=0.38809 (32697/84250, ALFA) (+ 20 more)
C=0.49844 (14085/28258, 14KJPN)
T=0.49964 (8374/16760, 8.3KJPN)
C=0.4279 (2740/6404, 1000G_30x)
C=0.4335 (2171/5008, 1000G)
C=0.4471 (2003/4480, Estonian)
C=0.3780 (1457/3854, ALSPAC)
C=0.3719 (1379/3708, TWINSUK)
C=0.4874 (1428/2930, KOREAN)
C=0.4688 (977/2084, HGDP_Stanford)
C=0.4463 (839/1880, HapMap)
C=0.4940 (905/1832, Korea1K)
C=0.331 (330/998, GoNL)
C=0.448 (269/600, NorthernSweden)
T=0.321 (120/374, SGDP_PRJ)
C=0.375 (81/216, Qatari)
T=0.332 (71/214, Vietnamese)
T=0.38 (16/42, Siberian)
C=0.35 (14/40, GENOME_DK)
T=0.50 (6/12, Ancient Sardinia)
C=0.50 (6/12, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIMS1 : Intron Variant
Publications
0 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 84250 T=0.61191 C=0.38809
European Sub 67714 T=0.61069 C=0.38931
African Sub 7354 T=0.6254 C=0.3746
African Others Sub 264 T=0.640 C=0.360
African American Sub 7090 T=0.6248 C=0.3752
Asian Sub 204 T=0.485 C=0.515
East Asian Sub 162 T=0.500 C=0.500
Other Asian Sub 42 T=0.43 C=0.57
Latin American 1 Sub 268 T=0.604 C=0.396
Latin American 2 Sub 1316 T=0.5464 C=0.4536
South Asian Sub 4974 T=0.6359 C=0.3641
Other Sub 2420 T=0.6029 C=0.3971


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 T=0.600359 C=0.399641
gnomAD - Genomes Global Study-wide 139872 T=0.598940 C=0.401060
gnomAD - Genomes European Sub 75792 T=0.59205 C=0.40795
gnomAD - Genomes African Sub 41866 T=0.64167 C=0.35833
gnomAD - Genomes American Sub 13636 T=0.54400 C=0.45600
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.5890 C=0.4110
gnomAD - Genomes East Asian Sub 3106 T=0.4530 C=0.5470
gnomAD - Genomes Other Sub 2148 T=0.5843 C=0.4157
Allele Frequency Aggregator Total Global 84250 T=0.61191 C=0.38809
Allele Frequency Aggregator European Sub 67714 T=0.61069 C=0.38931
Allele Frequency Aggregator African Sub 7354 T=0.6254 C=0.3746
Allele Frequency Aggregator South Asian Sub 4974 T=0.6359 C=0.3641
Allele Frequency Aggregator Other Sub 2420 T=0.6029 C=0.3971
Allele Frequency Aggregator Latin American 2 Sub 1316 T=0.5464 C=0.4536
Allele Frequency Aggregator Latin American 1 Sub 268 T=0.604 C=0.396
Allele Frequency Aggregator Asian Sub 204 T=0.485 C=0.515
14KJPN JAPANESE Study-wide 28258 T=0.50156 C=0.49844
8.3KJPN JAPANESE Study-wide 16760 T=0.49964 C=0.50036
1000Genomes_30x Global Study-wide 6404 T=0.5721 C=0.4279
1000Genomes_30x African Sub 1786 T=0.6316 C=0.3684
1000Genomes_30x Europe Sub 1266 T=0.5790 C=0.4210
1000Genomes_30x South Asian Sub 1202 T=0.6106 C=0.3894
1000Genomes_30x East Asian Sub 1170 T=0.4316 C=0.5684
1000Genomes_30x American Sub 980 T=0.576 C=0.424
1000Genomes Global Study-wide 5008 T=0.5665 C=0.4335
1000Genomes African Sub 1322 T=0.6225 C=0.3775
1000Genomes East Asian Sub 1008 T=0.4454 C=0.5546
1000Genomes Europe Sub 1006 T=0.5755 C=0.4245
1000Genomes South Asian Sub 978 T=0.605 C=0.395
1000Genomes American Sub 694 T=0.568 C=0.432
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.5529 C=0.4471
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6220 C=0.3780
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6281 C=0.3719
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5126 C=0.4874
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.5312 C=0.4688
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.487 C=0.513
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.669 C=0.331
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.477 C=0.523
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.569 C=0.431
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.678 C=0.322
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.296 C=0.704
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.33 C=0.67
HapMap Global Study-wide 1880 T=0.5537 C=0.4463
HapMap American Sub 766 T=0.574 C=0.426
HapMap African Sub 686 T=0.544 C=0.456
HapMap Asian Sub 254 T=0.492 C=0.508
HapMap Europe Sub 174 T=0.592 C=0.408
Korean Genome Project KOREAN Study-wide 1832 T=0.5060 C=0.4940
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.669 C=0.331
Northern Sweden ACPOP Study-wide 600 T=0.552 C=0.448
SGDP_PRJ Global Study-wide 374 T=0.321 C=0.679
Qatari Global Study-wide 216 T=0.625 C=0.375
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.332 C=0.668
Siberian Global Study-wide 42 T=0.38 C=0.62
The Danish reference pan genome Danish Study-wide 40 T=0.65 C=0.35
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 12 T=0.50 C=0.50
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 6 NC_000006.12:g.71974211T>C
GRCh37.p13 chr 6 NC_000006.11:g.72683914T>C
RIMS1 RefSeqGene NG_016209.1:g.92265T>C
Gene: RIMS1, regulating synaptic membrane exocytosis 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIMS1 transcript variant 7 NM_001350411.1:c.245+5148…

NM_001350411.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant 8 NM_001350412.1:c.164+8702…

NM_001350412.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant 9 NM_001350413.1:c.245+5148…

NM_001350413.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant 1 NM_014989.7:c.245+5148T>C N/A Intron Variant
RIMS1 transcript variant 2 NM_001168407.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 3 NM_001168408.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 4 NM_001168409.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 5 NM_001168410.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 6 NM_001168411.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 10 NM_001350414.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 11 NM_001350415.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 12 NM_001350416.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 13 NM_001350417.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 14 NM_001350418.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 15 NM_001350419.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 16 NM_001350420.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 17 NM_001350421.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 18 NM_001350422.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 19 NM_001350423.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 20 NM_001350424.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 21 NM_001350425.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 22 NM_001350426.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 23 NM_001350427.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 24 NM_001350428.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 25 NM_001350429.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 26 NM_001350430.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 27 NM_001350431.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 28 NM_001350432.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 29 NM_001350433.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 30 NM_001350434.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 31 NM_001350435.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 32 NM_001350436.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 33 NM_001350437.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 34 NM_001350438.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 35 NM_001350439.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 36 NM_001350440.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 37 NM_001350441.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 38 NM_001350442.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 39 NM_001350443.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 40 NM_001350444.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 41 NM_001350445.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 42 NM_001350446.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 43 NM_001350447.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 44 NM_001350448.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 45 NM_001350449.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 46 NM_001350450.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 47 NM_001350452.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 48 NM_001350454.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 49 NM_001350455.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 50 NM_001350456.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 51 NM_001350457.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 52 NM_001350458.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 53 NM_001350459.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 54 NM_001350460.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 55 NM_001350461.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 56 NM_001350462.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 57 NM_001350463.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 58 NM_001350464.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 59 NM_001350465.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 60 NM_001350466.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 61 NM_001350467.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 62 NM_001350468.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 63 NM_001350469.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 64 NM_001350470.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 65 NM_001350471.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 66 NM_001350472.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 67 NM_001350473.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant 68 NM_001350474.2:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant X23 XM_011535604.4:c.245+5148…

XM_011535604.4:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X2 XM_017010516.3:c.245+5148…

XM_017010516.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X4 XM_017010517.3:c.245+5148…

XM_017010517.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X5 XM_017010518.3:c.245+5148…

XM_017010518.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X21 XM_017010519.3:c.245+5148…

XM_017010519.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X6 XM_017010520.3:c.245+5148…

XM_017010520.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X7 XM_017010521.3:c.245+5148…

XM_017010521.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X22 XM_017010522.3:c.245+5148…

XM_017010522.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X24 XM_017010525.3:c.245+5148…

XM_017010525.3:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X1 XM_024446369.2:c.245+5148…

XM_024446369.2:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X3 XM_047418416.1:c.245+5148…

XM_047418416.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X8 XM_047418417.1:c.245+5148…

XM_047418417.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X9 XM_047418418.1:c.245+5148…

XM_047418418.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X10 XM_047418419.1:c.245+5148…

XM_047418419.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X11 XM_047418420.1:c.164+8702…

XM_047418420.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant X25 XM_047418421.1:c.245+5148…

XM_047418421.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X12 XM_047418422.1:c.164+8702…

XM_047418422.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant X13 XM_047418423.1:c.245+5148…

XM_047418423.1:c.245+5148T>C

N/A Intron Variant
RIMS1 transcript variant X14 XM_047418424.1:c.164+8702…

XM_047418424.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant X15 XM_047418425.1:c.164+8702…

XM_047418425.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant X16 XM_047418426.1:c.164+8702…

XM_047418426.1:c.164+87024T>C

N/A Intron Variant
RIMS1 transcript variant X17 XM_017010537.3:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant X19 XM_017010544.3:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant X20 XM_017010546.3:c. N/A Genic Upstream Transcript Variant
RIMS1 transcript variant X18 XM_024446372.2:c. N/A Genic Upstream Transcript Variant
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.

Not Reported in ClinVar
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 T= C
GRCh38.p14 chr 6 NC_000006.12:g.71974211= NC_000006.12:g.71974211T>C
GRCh37.p13 chr 6 NC_000006.11:g.72683914= NC_000006.11:g.72683914T>C
RIMS1 RefSeqGene NG_016209.1:g.92265= NG_016209.1:g.92265T>C
RIMS1 transcript variant 7 NM_001350411.1:c.245+5148= NM_001350411.1:c.245+5148T>C
RIMS1 transcript variant 8 NM_001350412.1:c.164+87024= NM_001350412.1:c.164+87024T>C
RIMS1 transcript variant 9 NM_001350413.1:c.245+5148= NM_001350413.1:c.245+5148T>C
RIMS1 transcript variant 1 NM_014989.5:c.245+5148= NM_014989.5:c.245+5148T>C
RIMS1 transcript variant 1 NM_014989.7:c.245+5148= NM_014989.7:c.245+5148T>C
RIMS1 transcript variant X1 XM_005248685.1:c.245+5148= XM_005248685.1:c.245+5148T>C
RIMS1 transcript variant X2 XM_005248686.1:c.245+5148= XM_005248686.1:c.245+5148T>C
RIMS1 transcript variant X3 XM_005248687.1:c.245+5148= XM_005248687.1:c.245+5148T>C
RIMS1 transcript variant X4 XM_005248688.1:c.245+5148= XM_005248688.1:c.245+5148T>C
RIMS1 transcript variant X5 XM_005248689.1:c.245+5148= XM_005248689.1:c.245+5148T>C
RIMS1 transcript variant X6 XM_005248690.1:c.245+5148= XM_005248690.1:c.245+5148T>C
RIMS1 transcript variant X7 XM_005248691.1:c.245+5148= XM_005248691.1:c.245+5148T>C
RIMS1 transcript variant X8 XM_005248692.1:c.245+5148= XM_005248692.1:c.245+5148T>C
RIMS1 transcript variant X23 XM_011535604.4:c.245+5148= XM_011535604.4:c.245+5148T>C
RIMS1 transcript variant X2 XM_017010516.3:c.245+5148= XM_017010516.3:c.245+5148T>C
RIMS1 transcript variant X4 XM_017010517.3:c.245+5148= XM_017010517.3:c.245+5148T>C
RIMS1 transcript variant X5 XM_017010518.3:c.245+5148= XM_017010518.3:c.245+5148T>C
RIMS1 transcript variant X21 XM_017010519.3:c.245+5148= XM_017010519.3:c.245+5148T>C
RIMS1 transcript variant X6 XM_017010520.3:c.245+5148= XM_017010520.3:c.245+5148T>C
RIMS1 transcript variant X7 XM_017010521.3:c.245+5148= XM_017010521.3:c.245+5148T>C
RIMS1 transcript variant X22 XM_017010522.3:c.245+5148= XM_017010522.3:c.245+5148T>C
RIMS1 transcript variant X24 XM_017010525.3:c.245+5148= XM_017010525.3:c.245+5148T>C
RIMS1 transcript variant X1 XM_024446369.2:c.245+5148= XM_024446369.2:c.245+5148T>C
RIMS1 transcript variant X3 XM_047418416.1:c.245+5148= XM_047418416.1:c.245+5148T>C
RIMS1 transcript variant X8 XM_047418417.1:c.245+5148= XM_047418417.1:c.245+5148T>C
RIMS1 transcript variant X9 XM_047418418.1:c.245+5148= XM_047418418.1:c.245+5148T>C
RIMS1 transcript variant X10 XM_047418419.1:c.245+5148= XM_047418419.1:c.245+5148T>C
RIMS1 transcript variant X11 XM_047418420.1:c.164+87024= XM_047418420.1:c.164+87024T>C
RIMS1 transcript variant X25 XM_047418421.1:c.245+5148= XM_047418421.1:c.245+5148T>C
RIMS1 transcript variant X12 XM_047418422.1:c.164+87024= XM_047418422.1:c.164+87024T>C
RIMS1 transcript variant X13 XM_047418423.1:c.245+5148= XM_047418423.1:c.245+5148T>C
RIMS1 transcript variant X14 XM_047418424.1:c.164+87024= XM_047418424.1:c.164+87024T>C
RIMS1 transcript variant X15 XM_047418425.1:c.164+87024= XM_047418425.1:c.164+87024T>C
RIMS1 transcript variant X16 XM_047418426.1:c.164+87024= XM_047418426.1:c.164+87024T>C
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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#.

93 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12779094 Dec 05, 2003 (119)
2 ILLUMINA ss67907093 Dec 02, 2006 (127)
3 ILLUMINA ss68036715 Dec 02, 2006 (127)
4 ILLUMINA ss68301212 Dec 12, 2006 (127)
5 ILLUMINA ss71601374 May 18, 2007 (127)
6 ILLUMINA ss75617978 Dec 06, 2007 (129)
7 KRIBB_YJKIM ss84806351 Dec 16, 2007 (130)
8 BCMHGSC_JDW ss93490227 Mar 24, 2008 (129)
9 ILLUMINA ss98248602 May 26, 2008 (130)
10 HUMANGENOME_JCVI ss98508825 Feb 06, 2009 (130)
11 1000GENOMES ss110324406 Jan 24, 2009 (130)
12 ILLUMINA-UK ss116539833 Feb 14, 2009 (130)
13 ENSEMBL ss144047017 Dec 01, 2009 (131)
14 ILLUMINA ss154488217 Dec 01, 2009 (131)
15 ILLUMINA ss159662320 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss166868184 Jul 04, 2010 (132)
17 ILLUMINA ss174816573 Jul 04, 2010 (132)
18 BUSHMAN ss202007518 Jul 04, 2010 (132)
19 1000GENOMES ss222465870 Jul 14, 2010 (132)
20 1000GENOMES ss233530742 Jul 15, 2010 (132)
21 1000GENOMES ss240574529 Jul 15, 2010 (132)
22 GMI ss278862597 May 04, 2012 (137)
23 GMI ss285437060 Apr 25, 2013 (138)
24 PJP ss293633880 May 09, 2011 (134)
25 ILLUMINA ss483602286 May 04, 2012 (137)
26 ILLUMINA ss485279866 May 04, 2012 (137)
27 ILLUMINA ss535807247 Sep 08, 2015 (146)
28 TISHKOFF ss559286420 Apr 25, 2013 (138)
29 SSMP ss653243255 Apr 25, 2013 (138)
30 ILLUMINA ss780339193 Aug 21, 2014 (142)
31 ILLUMINA ss782244574 Aug 21, 2014 (142)
32 ILLUMINA ss833173089 Aug 21, 2014 (142)
33 ILLUMINA ss833763917 Aug 21, 2014 (142)
34 ILLUMINA ss835826682 Aug 21, 2014 (142)
35 EVA-GONL ss983082667 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1073723360 Aug 21, 2014 (142)
37 1000GENOMES ss1320693891 Aug 21, 2014 (142)
38 DDI ss1430777504 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1581733931 Apr 01, 2015 (144)
40 EVA_DECODE ss1592625198 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1615860952 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1658854985 Apr 01, 2015 (144)
43 EVA_SVP ss1712872298 Apr 01, 2015 (144)
44 HAMMER_LAB ss1804498623 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1926339067 Feb 12, 2016 (147)
46 GENOMED ss1970432258 Jul 19, 2016 (147)
47 JJLAB ss2023811794 Sep 14, 2016 (149)
48 USC_VALOUEV ss2152003488 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2285048482 Dec 20, 2016 (150)
50 SYSTEMSBIOZJU ss2626400341 Nov 08, 2017 (151)
51 ILLUMINA ss2634467235 Nov 08, 2017 (151)
52 ILLUMINA ss2635158529 Nov 08, 2017 (151)
53 GRF ss2707612384 Nov 08, 2017 (151)
54 GNOMAD ss2840569592 Nov 08, 2017 (151)
55 SWEGEN ss2999310743 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3025699200 Nov 08, 2017 (151)
57 CSHL ss3347044662 Nov 08, 2017 (151)
58 ILLUMINA ss3629575174 Oct 12, 2018 (152)
59 ILLUMINA ss3632382773 Oct 12, 2018 (152)
60 ILLUMINA ss3638637313 Oct 12, 2018 (152)
61 ILLUMINA ss3639319090 Oct 12, 2018 (152)
62 ILLUMINA ss3639955204 Oct 12, 2018 (152)
63 ILLUMINA ss3642496828 Oct 12, 2018 (152)
64 ILLUMINA ss3643577856 Oct 12, 2018 (152)
65 ILLUMINA ss3644000057 Oct 12, 2018 (152)
66 URBANLAB ss3648384801 Oct 12, 2018 (152)
67 EGCUT_WGS ss3667180220 Jul 13, 2019 (153)
68 EVA_DECODE ss3717494272 Jul 13, 2019 (153)
69 ACPOP ss3733633524 Jul 13, 2019 (153)
70 EVA ss3765189174 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3808337605 Jul 13, 2019 (153)
72 EVA ss3829998594 Apr 26, 2020 (154)
73 HGDP ss3847838134 Apr 26, 2020 (154)
74 SGDP_PRJ ss3864877625 Apr 26, 2020 (154)
75 KRGDB ss3911744589 Apr 26, 2020 (154)
76 KOGIC ss3959319352 Apr 26, 2020 (154)
77 EVA ss3985230022 Apr 26, 2021 (155)
78 EVA ss4017281447 Apr 26, 2021 (155)
79 TOPMED ss4707924940 Apr 26, 2021 (155)
80 TOMMO_GENOMICS ss5178138381 Apr 26, 2021 (155)
81 1000G_HIGH_COVERAGE ss5268953461 Oct 17, 2022 (156)
82 EVA ss5315164759 Oct 17, 2022 (156)
83 EVA ss5366506990 Oct 17, 2022 (156)
84 HUGCELL_USP ss5466547383 Oct 17, 2022 (156)
85 EVA ss5508554511 Oct 17, 2022 (156)
86 1000G_HIGH_COVERAGE ss5555145391 Oct 17, 2022 (156)
87 SANFORD_IMAGENETICS ss5640690474 Oct 17, 2022 (156)
88 TOMMO_GENOMICS ss5716508303 Oct 17, 2022 (156)
89 YY_MCH ss5807605745 Oct 17, 2022 (156)
90 EVA ss5842449899 Oct 17, 2022 (156)
91 EVA ss5855413897 Oct 17, 2022 (156)
92 EVA ss5884368309 Oct 17, 2022 (156)
93 EVA ss5969185246 Oct 17, 2022 (156)
94 1000Genomes NC_000006.11 - 72683914 Oct 12, 2018 (152)
95 1000Genomes_30x NC_000006.12 - 71974211 Oct 17, 2022 (156)
96 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 72683914 Oct 12, 2018 (152)
97 Genetic variation in the Estonian population NC_000006.11 - 72683914 Oct 12, 2018 (152)
98 The Danish reference pan genome NC_000006.11 - 72683914 Apr 26, 2020 (154)
99 gnomAD - Genomes NC_000006.12 - 71974211 Apr 26, 2021 (155)
100 Genome of the Netherlands Release 5 NC_000006.11 - 72683914 Apr 26, 2020 (154)
101 HGDP-CEPH-db Supplement 1 NC_000006.10 - 72740635 Apr 26, 2020 (154)
102 HapMap NC_000006.12 - 71974211 Apr 26, 2020 (154)
103 KOREAN population from KRGDB NC_000006.11 - 72683914 Apr 26, 2020 (154)
104 Korean Genome Project NC_000006.12 - 71974211 Apr 26, 2020 (154)
105 Northern Sweden NC_000006.11 - 72683914 Jul 13, 2019 (153)
106 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000006.11 - 72683914 Apr 26, 2021 (155)
107 Qatari NC_000006.11 - 72683914 Apr 26, 2020 (154)
108 SGDP_PRJ NC_000006.11 - 72683914 Apr 26, 2020 (154)
109 Siberian NC_000006.11 - 72683914 Apr 26, 2020 (154)
110 8.3KJPN NC_000006.11 - 72683914 Apr 26, 2021 (155)
111 14KJPN NC_000006.12 - 71974211 Oct 17, 2022 (156)
112 TopMed NC_000006.12 - 71974211 Apr 26, 2021 (155)
113 UK 10K study - Twins NC_000006.11 - 72683914 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000006.11 - 72683914 Jul 13, 2019 (153)
115 ALFA NC_000006.12 - 71974211 Apr 26, 2021 (155)
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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)
rs61435762 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639319090, ss3639955204, ss3644000057 NC_000006.9:72740634:T:C NC_000006.12:71974210:T:C (self)
516026, ss93490227, ss110324406, ss116539833, ss166868184, ss202007518, ss278862597, ss285437060, ss293633880, ss485279866, ss1592625198, ss1712872298, ss2635158529, ss3643577856, ss3847838134 NC_000006.10:72740634:T:C NC_000006.12:71974210:T:C (self)
32502528, 18109160, 12918468, 7898870, 8067967, 18921983, 6918389, 455949, 8380997, 16894605, 4519842, 36107688, 18109160, 4022892, ss222465870, ss233530742, ss240574529, ss483602286, ss535807247, ss559286420, ss653243255, ss780339193, ss782244574, ss833173089, ss833763917, ss835826682, ss983082667, ss1073723360, ss1320693891, ss1430777504, ss1581733931, ss1615860952, ss1658854985, ss1804498623, ss1926339067, ss1970432258, ss2023811794, ss2152003488, ss2626400341, ss2634467235, ss2707612384, ss2840569592, ss2999310743, ss3347044662, ss3629575174, ss3632382773, ss3638637313, ss3642496828, ss3667180220, ss3733633524, ss3765189174, ss3829998594, ss3864877625, ss3911744589, ss3985230022, ss4017281447, ss5178138381, ss5315164759, ss5366506990, ss5508554511, ss5640690474, ss5842449899, ss5969185246 NC_000006.11:72683913:T:C NC_000006.12:71974210:T:C (self)
42671326, 229398019, 3162072, 15697353, 50345407, 545302498, 12940579192, ss2285048482, ss3025699200, ss3648384801, ss3717494272, ss3808337605, ss3959319352, ss4707924940, ss5268953461, ss5466547383, ss5555145391, ss5716508303, ss5807605745, ss5855413897, ss5884368309 NC_000006.12:71974210:T:C NC_000006.12:71974210:T:C (self)
ss12779094 NT_007299.12:10504086:T:C NC_000006.12:71974210:T:C (self)
ss67907093, ss68036715, ss68301212, ss71601374, ss75617978, ss84806351, ss98248602, ss98508825, ss144047017, ss154488217, ss159662320, ss174816573 NT_007299.13:10803747:T:C NC_000006.12:71974210:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs9341358

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.post761+d5e8e07