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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.

rs57983058

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:40656784-40656802 (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
del(A)5 / del(A)4 / delAAA / delAA…

del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)6 / dup(A)8

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.02507 (323/12882, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIMS3 : Intron Variant
LOC105378675 : 2KB Upstream 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 12882 AAAAAAAAAAAAAAAAAAA=0.96716 AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00031, AAAAAAAAAAAAAAAAAAAA=0.00629, AAAAAAAAAAAAAAAAAAAAA=0.02507, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00070, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00047, AAAAAAAAAAAAAAAAAAAAAA=0.00000 0.955097 0.004569 0.040334 32
European Sub 9976 AAAAAAAAAAAAAAAAAAA=0.9577 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAAA=0.0081, AAAAAAAAAAAAAAAAAAAAA=0.0323, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0006, AAAAAAAAAAAAAAAAAAAAAA=0.0000 0.94197 0.005926 0.052105 32
African Sub 1732 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 64 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1668 AAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 94 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 74 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 118 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 532 AAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 70 AAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 360 AAAAAAAAAAAAAAAAAAA=0.997 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000 0.994444 0.0 0.005556 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
Allele Frequency Aggregator Total Global 12882 (A)19=0.96716 delAA=0.00000, delA=0.00031, dupA=0.00629, dupAA=0.02507, dupAAA=0.00000, dup(A)6=0.00070, dup(A)8=0.00047
Allele Frequency Aggregator European Sub 9976 (A)19=0.9577 delAA=0.0000, delA=0.0004, dupA=0.0081, dupAA=0.0323, dupAAA=0.0000, dup(A)6=0.0009, dup(A)8=0.0006
Allele Frequency Aggregator African Sub 1732 (A)19=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)6=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator Latin American 2 Sub 532 (A)19=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)6=0.000, dup(A)8=0.000
Allele Frequency Aggregator Other Sub 360 (A)19=0.997 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.003, dupAAA=0.000, dup(A)6=0.000, dup(A)8=0.000
Allele Frequency Aggregator Latin American 1 Sub 118 (A)19=1.000 delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)6=0.000, dup(A)8=0.000
Allele Frequency Aggregator Asian Sub 94 (A)19=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)6=0.00, dup(A)8=0.00
Allele Frequency Aggregator South Asian Sub 70 (A)19=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)6=0.00, dup(A)8=0.00
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 1 NC_000001.11:g.40656798_40656802del
GRCh38.p14 chr 1 NC_000001.11:g.40656799_40656802del
GRCh38.p14 chr 1 NC_000001.11:g.40656800_40656802del
GRCh38.p14 chr 1 NC_000001.11:g.40656801_40656802del
GRCh38.p14 chr 1 NC_000001.11:g.40656802del
GRCh38.p14 chr 1 NC_000001.11:g.40656802dup
GRCh38.p14 chr 1 NC_000001.11:g.40656801_40656802dup
GRCh38.p14 chr 1 NC_000001.11:g.40656800_40656802dup
GRCh38.p14 chr 1 NC_000001.11:g.40656799_40656802dup
GRCh38.p14 chr 1 NC_000001.11:g.40656797_40656802dup
GRCh38.p14 chr 1 NC_000001.11:g.40656795_40656802dup
GRCh37.p13 chr 1 NC_000001.10:g.41122470_41122474del
GRCh37.p13 chr 1 NC_000001.10:g.41122471_41122474del
GRCh37.p13 chr 1 NC_000001.10:g.41122472_41122474del
GRCh37.p13 chr 1 NC_000001.10:g.41122473_41122474del
GRCh37.p13 chr 1 NC_000001.10:g.41122474del
GRCh37.p13 chr 1 NC_000001.10:g.41122474dup
GRCh37.p13 chr 1 NC_000001.10:g.41122473_41122474dup
GRCh37.p13 chr 1 NC_000001.10:g.41122472_41122474dup
GRCh37.p13 chr 1 NC_000001.10:g.41122471_41122474dup
GRCh37.p13 chr 1 NC_000001.10:g.41122469_41122474dup
GRCh37.p13 chr 1 NC_000001.10:g.41122467_41122474dup
Gene: RIMS3, regulating synaptic membrane exocytosis 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RIMS3 transcript NM_014747.3:c.-207+8606_-…

NM_014747.3:c.-207+8606_-207+8610del

N/A Intron Variant
RIMS3 transcript variant X1 XM_047435184.1:c.-206-894…

XM_047435184.1:c.-206-8946_-206-8942del

N/A Intron Variant
RIMS3 transcript variant X2 XM_047435189.1:c.-206-894…

XM_047435189.1:c.-206-8946_-206-8942del

N/A Intron Variant
Gene: LOC105378675, uncharacterized LOC105378675 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC105378675 transcript variant X3 XR_007066023.1:n. N/A Upstream Transcript Variant
LOC105378675 transcript variant X1 XR_947237.3:n. N/A Upstream Transcript Variant
LOC105378675 transcript variant X2 XR_947238.3:n. N/A 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 (A)19= del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)6 dup(A)8
GRCh38.p14 chr 1 NC_000001.11:g.40656784_40656802= NC_000001.11:g.40656798_40656802del NC_000001.11:g.40656799_40656802del NC_000001.11:g.40656800_40656802del NC_000001.11:g.40656801_40656802del NC_000001.11:g.40656802del NC_000001.11:g.40656802dup NC_000001.11:g.40656801_40656802dup NC_000001.11:g.40656800_40656802dup NC_000001.11:g.40656799_40656802dup NC_000001.11:g.40656797_40656802dup NC_000001.11:g.40656795_40656802dup
GRCh37.p13 chr 1 NC_000001.10:g.41122456_41122474= NC_000001.10:g.41122470_41122474del NC_000001.10:g.41122471_41122474del NC_000001.10:g.41122472_41122474del NC_000001.10:g.41122473_41122474del NC_000001.10:g.41122474del NC_000001.10:g.41122474dup NC_000001.10:g.41122473_41122474dup NC_000001.10:g.41122472_41122474dup NC_000001.10:g.41122471_41122474dup NC_000001.10:g.41122469_41122474dup NC_000001.10:g.41122467_41122474dup
RIMS3 transcript NM_014747.2:c.-207+8610= NM_014747.2:c.-207+8606_-207+8610del NM_014747.2:c.-207+8607_-207+8610del NM_014747.2:c.-207+8608_-207+8610del NM_014747.2:c.-207+8609_-207+8610del NM_014747.2:c.-207+8610del NM_014747.2:c.-207+8610dup NM_014747.2:c.-207+8609_-207+8610dup NM_014747.2:c.-207+8608_-207+8610dup NM_014747.2:c.-207+8607_-207+8610dup NM_014747.2:c.-207+8605_-207+8610dup NM_014747.2:c.-207+8603_-207+8610dup
RIMS3 transcript NM_014747.3:c.-207+8610= NM_014747.3:c.-207+8606_-207+8610del NM_014747.3:c.-207+8607_-207+8610del NM_014747.3:c.-207+8608_-207+8610del NM_014747.3:c.-207+8609_-207+8610del NM_014747.3:c.-207+8610del NM_014747.3:c.-207+8610dup NM_014747.3:c.-207+8609_-207+8610dup NM_014747.3:c.-207+8608_-207+8610dup NM_014747.3:c.-207+8607_-207+8610dup NM_014747.3:c.-207+8605_-207+8610dup NM_014747.3:c.-207+8603_-207+8610dup
RIMS3 transcript variant X1 XM_047435184.1:c.-206-8942= XM_047435184.1:c.-206-8946_-206-8942del XM_047435184.1:c.-206-8945_-206-8942del XM_047435184.1:c.-206-8944_-206-8942del XM_047435184.1:c.-206-8943_-206-8942del XM_047435184.1:c.-206-8942del XM_047435184.1:c.-206-8942dup XM_047435184.1:c.-206-8943_-206-8942dup XM_047435184.1:c.-206-8944_-206-8942dup XM_047435184.1:c.-206-8945_-206-8942dup XM_047435184.1:c.-206-8947_-206-8942dup XM_047435184.1:c.-206-8949_-206-8942dup
RIMS3 transcript variant X2 XM_047435189.1:c.-206-8942= XM_047435189.1:c.-206-8946_-206-8942del XM_047435189.1:c.-206-8945_-206-8942del XM_047435189.1:c.-206-8944_-206-8942del XM_047435189.1:c.-206-8943_-206-8942del XM_047435189.1:c.-206-8942del XM_047435189.1:c.-206-8942dup XM_047435189.1:c.-206-8943_-206-8942dup XM_047435189.1:c.-206-8944_-206-8942dup XM_047435189.1:c.-206-8945_-206-8942dup XM_047435189.1:c.-206-8947_-206-8942dup XM_047435189.1:c.-206-8949_-206-8942dup
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#.

33 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss82536618 Dec 14, 2007 (129)
2 SSMP ss663186158 Apr 01, 2015 (144)
3 SWEGEN ss2986662161 Nov 08, 2017 (151)
4 MCHAISSO ss3065297700 Nov 08, 2017 (151)
5 PACBIO ss3783385632 Jul 12, 2019 (153)
6 EVA ss3826127297 Apr 25, 2020 (154)
7 KOGIC ss3944306204 Apr 25, 2020 (154)
8 KOGIC ss3944306205 Apr 25, 2020 (154)
9 KOGIC ss3944306206 Apr 25, 2020 (154)
10 KOGIC ss3944306207 Apr 25, 2020 (154)
11 GNOMAD ss3991962529 Apr 25, 2021 (155)
12 GNOMAD ss3991962530 Apr 25, 2021 (155)
13 GNOMAD ss3991962531 Apr 25, 2021 (155)
14 GNOMAD ss3991962532 Apr 25, 2021 (155)
15 GNOMAD ss3991962533 Apr 25, 2021 (155)
16 GNOMAD ss3991962534 Apr 25, 2021 (155)
17 GNOMAD ss3991962535 Apr 25, 2021 (155)
18 GNOMAD ss3991962536 Apr 25, 2021 (155)
19 GNOMAD ss3991962537 Apr 25, 2021 (155)
20 GNOMAD ss3991962538 Apr 25, 2021 (155)
21 TOMMO_GENOMICS ss5143502771 Apr 25, 2021 (155)
22 TOMMO_GENOMICS ss5143502772 Apr 25, 2021 (155)
23 TOMMO_GENOMICS ss5143502773 Apr 25, 2021 (155)
24 1000G_HIGH_COVERAGE ss5241937192 Oct 17, 2022 (156)
25 HUGCELL_USP ss5443038070 Oct 17, 2022 (156)
26 HUGCELL_USP ss5443038071 Oct 17, 2022 (156)
27 HUGCELL_USP ss5443038072 Oct 17, 2022 (156)
28 HUGCELL_USP ss5443038073 Oct 17, 2022 (156)
29 HUGCELL_USP ss5443038074 Oct 17, 2022 (156)
30 TOMMO_GENOMICS ss5668132703 Oct 17, 2022 (156)
31 TOMMO_GENOMICS ss5668132704 Oct 17, 2022 (156)
32 TOMMO_GENOMICS ss5668132705 Oct 17, 2022 (156)
33 EVA ss5848870124 Oct 17, 2022 (156)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 8572959 (NC_000001.11:40656783::A 4361/68062)
Row 8572960 (NC_000001.11:40656783::AA 13200/68066)
Row 8572961 (NC_000001.11:40656783::AAA 35/68264)...

- Apr 25, 2021 (155)
44 Korean Genome Project

Submission ignored due to conflicting rows:
Row 684205 (NC_000001.11:40656784:A: 285/1814)
Row 684206 (NC_000001.11:40656785::A 234/1814)
Row 684207 (NC_000001.11:40656785::AA 30/1814)...

- Apr 25, 2020 (154)
45 Korean Genome Project

Submission ignored due to conflicting rows:
Row 684205 (NC_000001.11:40656784:A: 285/1814)
Row 684206 (NC_000001.11:40656785::A 234/1814)
Row 684207 (NC_000001.11:40656785::AA 30/1814)...

- Apr 25, 2020 (154)
46 Korean Genome Project

Submission ignored due to conflicting rows:
Row 684205 (NC_000001.11:40656784:A: 285/1814)
Row 684206 (NC_000001.11:40656785::A 234/1814)
Row 684207 (NC_000001.11:40656785::AA 30/1814)...

- Apr 25, 2020 (154)
47 Korean Genome Project

Submission ignored due to conflicting rows:
Row 684205 (NC_000001.11:40656784:A: 285/1814)
Row 684206 (NC_000001.11:40656785::A 234/1814)
Row 684207 (NC_000001.11:40656785::AA 30/1814)...

- Apr 25, 2020 (154)
48 8.3KJPN

Submission ignored due to conflicting rows:
Row 1472078 (NC_000001.10:41122455::A 128/16744)
Row 1472079 (NC_000001.10:41122455::AA 240/16744)
Row 1472080 (NC_000001.10:41122455:A: 34/16744)

- Apr 25, 2021 (155)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 1472078 (NC_000001.10:41122455::A 128/16744)
Row 1472079 (NC_000001.10:41122455::AA 240/16744)
Row 1472080 (NC_000001.10:41122455:A: 34/16744)

- Apr 25, 2021 (155)
50 8.3KJPN

Submission ignored due to conflicting rows:
Row 1472078 (NC_000001.10:41122455::A 128/16744)
Row 1472079 (NC_000001.10:41122455::AA 240/16744)
Row 1472080 (NC_000001.10:41122455:A: 34/16744)

- Apr 25, 2021 (155)
51 14KJPN

Submission ignored due to conflicting rows:
Row 1969807 (NC_000001.11:40656783::A 225/28238)
Row 1969808 (NC_000001.11:40656783::AA 425/28238)
Row 1969809 (NC_000001.11:40656783:A: 62/28238)

- Oct 17, 2022 (156)
52 14KJPN

Submission ignored due to conflicting rows:
Row 1969807 (NC_000001.11:40656783::A 225/28238)
Row 1969808 (NC_000001.11:40656783::AA 425/28238)
Row 1969809 (NC_000001.11:40656783:A: 62/28238)

- Oct 17, 2022 (156)
53 14KJPN

Submission ignored due to conflicting rows:
Row 1969807 (NC_000001.11:40656783::A 225/28238)
Row 1969808 (NC_000001.11:40656783::AA 425/28238)
Row 1969809 (NC_000001.11:40656783:A: 62/28238)

- Oct 17, 2022 (156)
54 ALFA NC_000001.11 - 40656784 Apr 25, 2021 (155)
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
ss3991962538 NC_000001.11:40656783:AAAAA: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3991962537 NC_000001.11:40656783:AAAA: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3991962536 NC_000001.11:40656783:AAA: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3944306207, ss3991962535, ss5443038074 NC_000001.11:40656783:AA: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss2986662161, ss3783385632, ss3826127297, ss5143502773 NC_000001.10:41122455:A: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3991962534, ss5443038070, ss5668132705 NC_000001.11:40656783:A: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3944306204 NC_000001.11:40656784:A: NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss663186158, ss5143502771 NC_000001.10:41122455::A NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3991962529, ss5443038071, ss5668132703, ss5848870124 NC_000001.11:40656783::A NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3944306205 NC_000001.11:40656785::A NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss5143502772 NC_000001.10:41122455::AA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3065297700, ss3991962530, ss5241937192, ss5443038072, ss5668132704 NC_000001.11:40656783::AA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3944306206 NC_000001.11:40656785::AA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss82536618 NT_032977.9:11094392::AA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3991962531, ss5443038073 NC_000001.11:40656783::AAA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3991962532 NC_000001.11:40656783::AAAA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3991962533 NC_000001.11:40656783::AAAAAAAA NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
2325783468 NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:40656783:AAAAAAAAAAAA…

NC_000001.11:40656783:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Help

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

No publications for rs57983058

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