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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.

rs34589640

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:188769117-188769133 (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(T)7 / delTTT / delTT / delT / …

del(T)7 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)6 / dup(T)7 / dup(T)8 / dup(T)10 / ins(T)10G(T)37 / dup(T)12 / ins(T)59

Variation Type
Indel Insertion and Deletion
Frequency
del(T)7=0.0000 (0/9012, ALFA)
delTTT=0.0000 (0/9012, ALFA)
delTT=0.0000 (0/9012, ALFA) (+ 5 more)
delT=0.0000 (0/9012, ALFA)
dupT=0.0000 (0/9012, ALFA)
dupTT=0.0000 (0/9012, ALFA)
dupTTT=0.0000 (0/9012, ALFA)
delT=0.119 (64/536, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DIRC1 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 9012 TTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
European Sub 6470 TTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Sub 1482 TTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
African Others Sub 48 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 1434 TTTTTTTTTTTTTTTTT=1.0000 TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000 1.0 0.0 0.0 N/A
Asian Sub 94 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 72 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 22 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 116 TTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 420 TTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 84 TTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 346 TTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A


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 9012 (T)17=1.0000 del(T)7=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator European Sub 6470 (T)17=1.0000 del(T)7=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator African Sub 1482 (T)17=1.0000 del(T)7=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 420 (T)17=1.000 del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Other Sub 346 (T)17=1.000 del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Latin American 1 Sub 116 (T)17=1.000 del(T)7=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Asian Sub 94 (T)17=1.00 del(T)7=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator South Asian Sub 84 (T)17=1.00 del(T)7=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Northern Sweden ACPOP Study-wide 536 (T)17=0.881 delT=0.119
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 2 NC_000002.12:g.188769127_188769133del
GRCh38.p14 chr 2 NC_000002.12:g.188769131_188769133del
GRCh38.p14 chr 2 NC_000002.12:g.188769132_188769133del
GRCh38.p14 chr 2 NC_000002.12:g.188769133del
GRCh38.p14 chr 2 NC_000002.12:g.188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769132_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769131_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769130_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769128_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769127_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769126_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769124_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769117_188769133T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 2 NC_000002.12:g.188769122_188769133dup
GRCh38.p14 chr 2 NC_000002.12:g.188769133_188769134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2 NC_000002.11:g.189633854_189633860del
GRCh37.p13 chr 2 NC_000002.11:g.189633858_189633860del
GRCh37.p13 chr 2 NC_000002.11:g.189633859_189633860del
GRCh37.p13 chr 2 NC_000002.11:g.189633860del
GRCh37.p13 chr 2 NC_000002.11:g.189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633859_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633858_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633857_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633855_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633854_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633853_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633851_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633844_189633860T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 2 NC_000002.11:g.189633849_189633860dup
GRCh37.p13 chr 2 NC_000002.11:g.189633860_189633861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
DIRC1 RefSeqGene NG_027691.1:g.25982_25988del
DIRC1 RefSeqGene NG_027691.1:g.25986_25988del
DIRC1 RefSeqGene NG_027691.1:g.25987_25988del
DIRC1 RefSeqGene NG_027691.1:g.25988del
DIRC1 RefSeqGene NG_027691.1:g.25988dup
DIRC1 RefSeqGene NG_027691.1:g.25987_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25986_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25985_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25983_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25982_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25981_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25979_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25972_25988A[37]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
DIRC1 RefSeqGene NG_027691.1:g.25977_25988dup
DIRC1 RefSeqGene NG_027691.1:g.25988_25989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene: DIRC1, disrupted in renal carcinoma 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DIRC1 transcript NR_161166.1:n. N/A Intron 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)17= del(T)7 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)6 dup(T)7 dup(T)8 dup(T)10 ins(T)10G(T)37 dup(T)12 ins(T)59
GRCh38.p14 chr 2 NC_000002.12:g.188769117_188769133= NC_000002.12:g.188769127_188769133del NC_000002.12:g.188769131_188769133del NC_000002.12:g.188769132_188769133del NC_000002.12:g.188769133del NC_000002.12:g.188769133dup NC_000002.12:g.188769132_188769133dup NC_000002.12:g.188769131_188769133dup NC_000002.12:g.188769130_188769133dup NC_000002.12:g.188769128_188769133dup NC_000002.12:g.188769127_188769133dup NC_000002.12:g.188769126_188769133dup NC_000002.12:g.188769124_188769133dup NC_000002.12:g.188769117_188769133T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000002.12:g.188769122_188769133dup NC_000002.12:g.188769133_188769134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 2 NC_000002.11:g.189633844_189633860= NC_000002.11:g.189633854_189633860del NC_000002.11:g.189633858_189633860del NC_000002.11:g.189633859_189633860del NC_000002.11:g.189633860del NC_000002.11:g.189633860dup NC_000002.11:g.189633859_189633860dup NC_000002.11:g.189633858_189633860dup NC_000002.11:g.189633857_189633860dup NC_000002.11:g.189633855_189633860dup NC_000002.11:g.189633854_189633860dup NC_000002.11:g.189633853_189633860dup NC_000002.11:g.189633851_189633860dup NC_000002.11:g.189633844_189633860T[27]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] NC_000002.11:g.189633849_189633860dup NC_000002.11:g.189633860_189633861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
DIRC1 RefSeqGene NG_027691.1:g.25972_25988= NG_027691.1:g.25982_25988del NG_027691.1:g.25986_25988del NG_027691.1:g.25987_25988del NG_027691.1:g.25988del NG_027691.1:g.25988dup NG_027691.1:g.25987_25988dup NG_027691.1:g.25986_25988dup NG_027691.1:g.25985_25988dup NG_027691.1:g.25983_25988dup NG_027691.1:g.25982_25988dup NG_027691.1:g.25981_25988dup NG_027691.1:g.25979_25988dup NG_027691.1:g.25972_25988A[37]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_027691.1:g.25977_25988dup NG_027691.1:g.25988_25989insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
DIRC1 transcript NM_052952.2:c.-30+20746= NM_052952.2:c.-30+20740_-30+20746del NM_052952.2:c.-30+20744_-30+20746del NM_052952.2:c.-30+20745_-30+20746del NM_052952.2:c.-30+20746del NM_052952.2:c.-30+20746dup NM_052952.2:c.-30+20745_-30+20746dup NM_052952.2:c.-30+20744_-30+20746dup NM_052952.2:c.-30+20743_-30+20746dup NM_052952.2:c.-30+20741_-30+20746dup NM_052952.2:c.-30+20740_-30+20746dup NM_052952.2:c.-30+20739_-30+20746dup NM_052952.2:c.-30+20737_-30+20746dup NM_052952.2:c.-30+20746_-30+20747insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAA NM_052952.2:c.-30+20735_-30+20746dup NM_052952.2:c.-30+20746_-30+20747insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
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#.

31 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41822331 Mar 14, 2006 (126)
2 BCMHGSC_JDW ss103640251 Mar 15, 2016 (147)
3 EVA_DECODE ss3705655506 Jul 13, 2019 (153)
4 ACPOP ss3729212599 Jul 13, 2019 (153)
5 EVA ss3827413920 Apr 25, 2020 (154)
6 KOGIC ss3949721665 Apr 25, 2020 (154)
7 KOGIC ss3949721666 Apr 25, 2020 (154)
8 GNOMAD ss4057706814 Apr 26, 2021 (155)
9 GNOMAD ss4057706815 Apr 26, 2021 (155)
10 GNOMAD ss4057706816 Apr 26, 2021 (155)
11 GNOMAD ss4057706817 Apr 26, 2021 (155)
12 GNOMAD ss4057706818 Apr 26, 2021 (155)
13 GNOMAD ss4057706819 Apr 26, 2021 (155)
14 GNOMAD ss4057706820 Apr 26, 2021 (155)
15 GNOMAD ss4057706821 Apr 26, 2021 (155)
16 GNOMAD ss4057706822 Apr 26, 2021 (155)
17 GNOMAD ss4057706823 Apr 26, 2021 (155)
18 GNOMAD ss4057706825 Apr 26, 2021 (155)
19 GNOMAD ss4057706826 Apr 26, 2021 (155)
20 GNOMAD ss4057706827 Apr 26, 2021 (155)
21 TOMMO_GENOMICS ss5155646572 Apr 26, 2021 (155)
22 TOMMO_GENOMICS ss5155646573 Apr 26, 2021 (155)
23 TOMMO_GENOMICS ss5155646574 Apr 26, 2021 (155)
24 1000G_HIGH_COVERAGE ss5251376602 Oct 17, 2022 (156)
25 HUGCELL_USP ss5451057607 Oct 17, 2022 (156)
26 HUGCELL_USP ss5451057608 Oct 17, 2022 (156)
27 HUGCELL_USP ss5451057609 Oct 17, 2022 (156)
28 HUGCELL_USP ss5451057610 Oct 17, 2022 (156)
29 TOMMO_GENOMICS ss5686280360 Oct 17, 2022 (156)
30 TOMMO_GENOMICS ss5686280361 Oct 17, 2022 (156)
31 TOMMO_GENOMICS ss5686280362 Oct 17, 2022 (156)
32 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
33 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
37 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
38 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
39 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
40 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
41 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
42 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
43 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 85331999 (NC_000002.12:188769116::T 2427/96718)
Row 85332000 (NC_000002.12:188769116::TT 3937/96576)
Row 85332001 (NC_000002.12:188769116::TTT 103/96782)...

- Apr 26, 2021 (155)
46 Korean Genome Project

Submission ignored due to conflicting rows:
Row 6099666 (NC_000002.12:188769117:T: 55/1830)
Row 6099667 (NC_000002.12:188769118::T 63/1830)

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

Submission ignored due to conflicting rows:
Row 6099666 (NC_000002.12:188769117:T: 55/1830)
Row 6099667 (NC_000002.12:188769118::T 63/1830)

- Apr 25, 2020 (154)
48 Northern Sweden NC_000002.11 - 189633844 Jul 13, 2019 (153)
49 8.3KJPN

Submission ignored due to conflicting rows:
Row 13615879 (NC_000002.11:189633843:T: 632/16754)
Row 13615880 (NC_000002.11:189633843::T 731/16754)
Row 13615881 (NC_000002.11:189633843::TT 3/16754)

- Apr 26, 2021 (155)
50 8.3KJPN

Submission ignored due to conflicting rows:
Row 13615879 (NC_000002.11:189633843:T: 632/16754)
Row 13615880 (NC_000002.11:189633843::T 731/16754)
Row 13615881 (NC_000002.11:189633843::TT 3/16754)

- Apr 26, 2021 (155)
51 8.3KJPN

Submission ignored due to conflicting rows:
Row 13615879 (NC_000002.11:189633843:T: 632/16754)
Row 13615880 (NC_000002.11:189633843::T 731/16754)
Row 13615881 (NC_000002.11:189633843::TT 3/16754)

- Apr 26, 2021 (155)
52 14KJPN

Submission ignored due to conflicting rows:
Row 20117464 (NC_000002.12:188769116::T 1055/28062)
Row 20117465 (NC_000002.12:188769116:T: 1005/28062)
Row 20117466 (NC_000002.12:188769116::TT 3/28062)

- Oct 17, 2022 (156)
53 14KJPN

Submission ignored due to conflicting rows:
Row 20117464 (NC_000002.12:188769116::T 1055/28062)
Row 20117465 (NC_000002.12:188769116:T: 1005/28062)
Row 20117466 (NC_000002.12:188769116::TT 3/28062)

- Oct 17, 2022 (156)
54 14KJPN

Submission ignored due to conflicting rows:
Row 20117464 (NC_000002.12:188769116::T 1055/28062)
Row 20117465 (NC_000002.12:188769116:T: 1005/28062)
Row 20117466 (NC_000002.12:188769116::TT 3/28062)

- Oct 17, 2022 (156)
55 ALFA NC_000002.12 - 188769117 Apr 26, 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).

Associated ID History Updated (Build)
rs80092908 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4057706827 NC_000002.12:188769116:TTTTTTT: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4057706826, ss5451057608 NC_000002.12:188769116:TT: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss103640251 NT_005403.17:39843276:TT: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
2497464, ss3729212599, ss3827413920, ss5155646572 NC_000002.11:189633843:T: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4057706825, ss5251376602, ss5451057607, ss5686280361 NC_000002.12:188769116:T: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3949721665 NC_000002.12:188769117:T: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss41822331 NT_005403.17:39843277:T: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5155646573 NC_000002.11:189633843::T NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4057706814, ss5451057609, ss5686280360 NC_000002.12:188769116::T NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3949721666 NC_000002.12:188769118::T NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3705655506 NC_000002.12:188769119::T NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss5155646574 NC_000002.11:189633843::TT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4057706815, ss5451057610, ss5686280362 NC_000002.12:188769116::TT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4057706816 NC_000002.12:188769116::TTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
9291442390 NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
ss4057706817 NC_000002.12:188769116::TTTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706818 NC_000002.12:188769116::TTTTTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706819 NC_000002.12:188769116::TTTTTTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706820 NC_000002.12:188769116::TTTTTTTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706821 NC_000002.12:188769116::TTTTTTTTTT NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706823 NC_000002.12:188769116::TTTTTTTTTT…

NC_000002.12:188769116::TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4057706822 NC_000002.12:188769116::TTTTTTTTTT…

NC_000002.12:188769116::TTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
NC_000002.12:188769116::TTTTTTTTTT…

NC_000002.12:188769116::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3333377137 NC_000002.12:188769116:TTT: NC_000002.12:188769116:TTTTTTTTTTT…

NC_000002.12:188769116:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

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 rs34589640

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