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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.

rs77333990

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:192754591-192754603 (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)11 / delTTT / delTT / delT /…

del(T)11 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)11 / dup(T)12 / dup(T)13

Variation Type
Indel Insertion and Deletion
Frequency
dupTT=0.2321 (1722/7420, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PCGEM1 : 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 7420 TTTTTTTTTTTTT=0.7500 TT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.2321, TTTTTTTTTTTTTTTT=0.0166, TTTTTTTTTTTTTTTTTTTTTTTT=0.0008, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000 0.64849 0.118289 0.233221 32
European Sub 6502 TTTTTTTTTTTTT=0.7152 TT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.2644, TTTTTTTTTTTTTTTT=0.0189, TTTTTTTTTTTTTTTTTTTTTTTT=0.0009, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000 0.597369 0.135387 0.267244 32
African Sub 502 TTTTTTTTTTTTT=1.000 TT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 16 TTTTTTTTTTTTT=1.00 TT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 486 TTTTTTTTTTTTT=1.000 TT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 16 TTTTTTTTTTTTT=1.00 TT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 16 TTTTTTTTTTTTT=1.00 TT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTT=0 TT=0, TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 38 TTTTTTTTTTTTT=1.00 TT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 210 TTTTTTTTTTTTT=1.000 TT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 18 TTTTTTTTTTTTT=1.00 TT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 134 TTTTTTTTTTTTT=0.978 TT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.022, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000 0.970149 0.014925 0.014925 16


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 7420 (T)13=0.7500 del(T)11=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.2321, dupTTT=0.0166, dup(T)4=0.0000, dup(T)5=0.0000, dup(T)11=0.0008, dup(T)12=0.0005
Allele Frequency Aggregator European Sub 6502 (T)13=0.7152 del(T)11=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.2644, dupTTT=0.0189, dup(T)4=0.0000, dup(T)5=0.0000, dup(T)11=0.0009, dup(T)12=0.0006
Allele Frequency Aggregator African Sub 502 (T)13=1.000 del(T)11=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)11=0.000, dup(T)12=0.000
Allele Frequency Aggregator Latin American 2 Sub 210 (T)13=1.000 del(T)11=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)11=0.000, dup(T)12=0.000
Allele Frequency Aggregator Other Sub 134 (T)13=0.978 del(T)11=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.022, dupTTT=0.000, dup(T)4=0.000, dup(T)5=0.000, dup(T)11=0.000, dup(T)12=0.000
Allele Frequency Aggregator Latin American 1 Sub 38 (T)13=1.00 del(T)11=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)11=0.00, dup(T)12=0.00
Allele Frequency Aggregator South Asian Sub 18 (T)13=1.00 del(T)11=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)11=0.00, dup(T)12=0.00
Allele Frequency Aggregator Asian Sub 16 (T)13=1.00 del(T)11=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00, dup(T)5=0.00, dup(T)11=0.00, dup(T)12=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 2 NC_000002.12:g.192754593_192754603del
GRCh38.p14 chr 2 NC_000002.12:g.192754601_192754603del
GRCh38.p14 chr 2 NC_000002.12:g.192754602_192754603del
GRCh38.p14 chr 2 NC_000002.12:g.192754603del
GRCh38.p14 chr 2 NC_000002.12:g.192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754602_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754601_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754600_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754599_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754593_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754592_192754603dup
GRCh38.p14 chr 2 NC_000002.12:g.192754591_192754603dup
GRCh37.p13 chr 2 NC_000002.11:g.193619319_193619329del
GRCh37.p13 chr 2 NC_000002.11:g.193619327_193619329del
GRCh37.p13 chr 2 NC_000002.11:g.193619328_193619329del
GRCh37.p13 chr 2 NC_000002.11:g.193619329del
GRCh37.p13 chr 2 NC_000002.11:g.193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619328_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619327_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619326_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619325_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619319_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619318_193619329dup
GRCh37.p13 chr 2 NC_000002.11:g.193619317_193619329dup
Gene: PCGEM1, PCGEM1 prostate-specific transcript (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PCGEM1 transcript variant 1 NR_002769.1:n. N/A Intron Variant
PCGEM1 transcript variant 2 NR_152587.1: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)13= del(T)11 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)11 dup(T)12 dup(T)13
GRCh38.p14 chr 2 NC_000002.12:g.192754591_192754603= NC_000002.12:g.192754593_192754603del NC_000002.12:g.192754601_192754603del NC_000002.12:g.192754602_192754603del NC_000002.12:g.192754603del NC_000002.12:g.192754603dup NC_000002.12:g.192754602_192754603dup NC_000002.12:g.192754601_192754603dup NC_000002.12:g.192754600_192754603dup NC_000002.12:g.192754599_192754603dup NC_000002.12:g.192754593_192754603dup NC_000002.12:g.192754592_192754603dup NC_000002.12:g.192754591_192754603dup
GRCh37.p13 chr 2 NC_000002.11:g.193619317_193619329= NC_000002.11:g.193619319_193619329del NC_000002.11:g.193619327_193619329del NC_000002.11:g.193619328_193619329del NC_000002.11:g.193619329del NC_000002.11:g.193619329dup NC_000002.11:g.193619328_193619329dup NC_000002.11:g.193619327_193619329dup NC_000002.11:g.193619326_193619329dup NC_000002.11:g.193619325_193619329dup NC_000002.11:g.193619319_193619329dup NC_000002.11:g.193619318_193619329dup NC_000002.11:g.193619317_193619329dup
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#.

59 SubSNP, 33 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss79819328 Dec 04, 2013 (138)
2 BCMHGSC_JDW ss103640718 Dec 01, 2009 (131)
3 GMI ss288271307 Oct 11, 2018 (152)
4 SSMP ss663270727 Apr 01, 2015 (144)
5 DDI ss1536323488 Apr 01, 2015 (144)
6 EVA_UK10K_ALSPAC ss1703340403 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1703340404 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1703340405 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1703340406 Apr 01, 2015 (144)
10 SYSTEMSBIOZJU ss2625034723 Nov 08, 2017 (151)
11 SWEGEN ss2991098009 Nov 08, 2017 (151)
12 SWEGEN ss2991098011 Nov 08, 2017 (151)
13 SWEGEN ss2991098012 Nov 08, 2017 (151)
14 MCHAISSO ss3063972607 Nov 08, 2017 (151)
15 MCHAISSO ss3064826910 Nov 08, 2017 (151)
16 MCHAISSO ss3065785626 Nov 08, 2017 (151)
17 ACPOP ss3729234239 Jul 13, 2019 (153)
18 ACPOP ss3729234240 Jul 13, 2019 (153)
19 PACBIO ss3784107536 Jul 13, 2019 (153)
20 PACBIO ss3789652996 Jul 13, 2019 (153)
21 PACBIO ss3794526135 Jul 13, 2019 (153)
22 EVA ss3837132723 Apr 25, 2020 (154)
23 EVA ss3842553559 Apr 25, 2020 (154)
24 KOGIC ss3949770623 Apr 25, 2020 (154)
25 KOGIC ss3949770624 Apr 25, 2020 (154)
26 KOGIC ss3949770625 Apr 25, 2020 (154)
27 KOGIC ss3949770626 Apr 25, 2020 (154)
28 GNOMAD ss4058173309 Apr 26, 2021 (155)
29 GNOMAD ss4058173310 Apr 26, 2021 (155)
30 GNOMAD ss4058173311 Apr 26, 2021 (155)
31 GNOMAD ss4058173312 Apr 26, 2021 (155)
32 GNOMAD ss4058173313 Apr 26, 2021 (155)
33 GNOMAD ss4058173314 Apr 26, 2021 (155)
34 GNOMAD ss4058173315 Apr 26, 2021 (155)
35 GNOMAD ss4058173316 Apr 26, 2021 (155)
36 GNOMAD ss4058173318 Apr 26, 2021 (155)
37 GNOMAD ss4058173319 Apr 26, 2021 (155)
38 GNOMAD ss4058173320 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5155763021 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5155763022 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5155763023 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5155763024 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5155763025 Apr 26, 2021 (155)
44 1000G_HIGH_COVERAGE ss5251467444 Oct 12, 2022 (156)
45 1000G_HIGH_COVERAGE ss5251467445 Oct 12, 2022 (156)
46 1000G_HIGH_COVERAGE ss5251467446 Oct 12, 2022 (156)
47 1000G_HIGH_COVERAGE ss5251467448 Oct 12, 2022 (156)
48 1000G_HIGH_COVERAGE ss5251467449 Oct 12, 2022 (156)
49 HUGCELL_USP ss5451139424 Oct 12, 2022 (156)
50 HUGCELL_USP ss5451139425 Oct 12, 2022 (156)
51 HUGCELL_USP ss5451139427 Oct 12, 2022 (156)
52 HUGCELL_USP ss5451139428 Oct 12, 2022 (156)
53 TOMMO_GENOMICS ss5686429952 Oct 12, 2022 (156)
54 TOMMO_GENOMICS ss5686429953 Oct 12, 2022 (156)
55 TOMMO_GENOMICS ss5686429954 Oct 12, 2022 (156)
56 TOMMO_GENOMICS ss5686429956 Oct 12, 2022 (156)
57 TOMMO_GENOMICS ss5686429957 Oct 12, 2022 (156)
58 EVA ss5821373536 Oct 12, 2022 (156)
59 EVA ss5821373537 Oct 12, 2022 (156)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6676008 (NC_000002.11:193619316::TT 1617/3854)
Row 6676009 (NC_000002.11:193619316::TTT 145/3854)

- Oct 11, 2018 (152)
61 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 6676008 (NC_000002.11:193619316::TT 1617/3854)
Row 6676009 (NC_000002.11:193619316::TTT 145/3854)

- Oct 11, 2018 (152)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 86103510 (NC_000002.12:192754590::T 520/131790)
Row 86103511 (NC_000002.12:192754590::TT 60709/131682)
Row 86103512 (NC_000002.12:192754590::TTT 4226/131872)...

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

Submission ignored due to conflicting rows:
Row 6148624 (NC_000002.12:192754591::T 44/1828)
Row 6148625 (NC_000002.12:192754591::TT 834/1828)
Row 6148626 (NC_000002.12:192754590:T: 18/1828)...

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

Submission ignored due to conflicting rows:
Row 6148624 (NC_000002.12:192754591::T 44/1828)
Row 6148625 (NC_000002.12:192754591::TT 834/1828)
Row 6148626 (NC_000002.12:192754590:T: 18/1828)...

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

Submission ignored due to conflicting rows:
Row 6148624 (NC_000002.12:192754591::T 44/1828)
Row 6148625 (NC_000002.12:192754591::TT 834/1828)
Row 6148626 (NC_000002.12:192754590:T: 18/1828)...

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

Submission ignored due to conflicting rows:
Row 6148624 (NC_000002.12:192754591::T 44/1828)
Row 6148625 (NC_000002.12:192754591::TT 834/1828)
Row 6148626 (NC_000002.12:192754590:T: 18/1828)...

- Apr 25, 2020 (154)
78 Northern Sweden

Submission ignored due to conflicting rows:
Row 2519104 (NC_000002.11:193619316::TT 229/596)
Row 2519105 (NC_000002.11:193619316::TTT 15/596)

- Jul 13, 2019 (153)
79 Northern Sweden

Submission ignored due to conflicting rows:
Row 2519104 (NC_000002.11:193619316::TT 229/596)
Row 2519105 (NC_000002.11:193619316::TTT 15/596)

- Jul 13, 2019 (153)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 13732328 (NC_000002.11:193619316::TT 9613/16746)
Row 13732329 (NC_000002.11:193619316:T: 4/16746)
Row 13732330 (NC_000002.11:193619316::TTT 246/16746)...

- Apr 26, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 13732328 (NC_000002.11:193619316::TT 9613/16746)
Row 13732329 (NC_000002.11:193619316:T: 4/16746)
Row 13732330 (NC_000002.11:193619316::TTT 246/16746)...

- Apr 26, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 13732328 (NC_000002.11:193619316::TT 9613/16746)
Row 13732329 (NC_000002.11:193619316:T: 4/16746)
Row 13732330 (NC_000002.11:193619316::TTT 246/16746)...

- Apr 26, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 13732328 (NC_000002.11:193619316::TT 9613/16746)
Row 13732329 (NC_000002.11:193619316:T: 4/16746)
Row 13732330 (NC_000002.11:193619316::TTT 246/16746)...

- Apr 26, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 13732328 (NC_000002.11:193619316::TT 9613/16746)
Row 13732329 (NC_000002.11:193619316:T: 4/16746)
Row 13732330 (NC_000002.11:193619316::TTT 246/16746)...

- Apr 26, 2021 (155)
85 14KJPN

Submission ignored due to conflicting rows:
Row 20267056 (NC_000002.12:192754590::TT 16104/28240)
Row 20267057 (NC_000002.12:192754590::TTT 383/28240)
Row 20267058 (NC_000002.12:192754590::T 30/28240)...

- Oct 12, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 20267056 (NC_000002.12:192754590::TT 16104/28240)
Row 20267057 (NC_000002.12:192754590::TTT 383/28240)
Row 20267058 (NC_000002.12:192754590::T 30/28240)...

- Oct 12, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 20267056 (NC_000002.12:192754590::TT 16104/28240)
Row 20267057 (NC_000002.12:192754590::TTT 383/28240)
Row 20267058 (NC_000002.12:192754590::T 30/28240)...

- Oct 12, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 20267056 (NC_000002.12:192754590::TT 16104/28240)
Row 20267057 (NC_000002.12:192754590::TTT 383/28240)
Row 20267058 (NC_000002.12:192754590::T 30/28240)...

- Oct 12, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 20267056 (NC_000002.12:192754590::TT 16104/28240)
Row 20267057 (NC_000002.12:192754590::TTT 383/28240)
Row 20267058 (NC_000002.12:192754590::T 30/28240)...

- Oct 12, 2022 (156)
90 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6676008 (NC_000002.11:193619316::TT 1595/3708)
Row 6676009 (NC_000002.11:193619316::TTT 132/3708)

- Oct 11, 2018 (152)
91 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 6676008 (NC_000002.11:193619316::TT 1595/3708)
Row 6676009 (NC_000002.11:193619316::TTT 132/3708)

- Oct 11, 2018 (152)
92 ALFA NC_000002.12 - 192754591 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4058173320 NC_000002.12:192754590:TTTTTTTTTTT: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TT

(self)
ss4058173319 NC_000002.12:192754590:TTT: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4058173318, ss5251467445, ss5451139428 NC_000002.12:192754590:TT: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss103640718 NT_005403.17:43828745:TT: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTT

(self)
ss5155763022 NC_000002.11:193619316:T: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss3949770625, ss5686429956 NC_000002.12:192754590:T: NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss2991098012, ss5155763024 NC_000002.11:193619316::T NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4058173309, ss5251467448, ss5451139427, ss5686429954 NC_000002.12:192754590::T NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3949770623 NC_000002.12:192754591::T NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss288271307 NC_000002.10:193327574::TT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss663270727, ss1536323488, ss1703340403, ss1703340404, ss2625034723, ss2991098009, ss3729234239, ss3784107536, ss3789652996, ss3794526135, ss3837132723, ss5155763021, ss5821373536 NC_000002.11:193619316::TT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3063972607, ss3064826910, ss3065785626, ss3842553559, ss4058173310, ss5251467444, ss5451139424, ss5686429952 NC_000002.12:192754590::TT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3949770624 NC_000002.12:192754591::TT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss79819328 NT_005403.17:43828747::TT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1703340405, ss1703340406, ss2991098011, ss3729234240, ss5155763023, ss5821373537 NC_000002.11:193619316::TTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4058173311, ss5251467446, ss5451139425, ss5686429953 NC_000002.12:192754590::TTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3949770626 NC_000002.12:192754591::TTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5155763025 NC_000002.11:193619316::TTTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4058173312, ss5251467449, ss5686429957 NC_000002.12:192754590::TTTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4058173313 NC_000002.12:192754590::TTTTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4058173314 NC_000002.12:192754590::TTTTTTTTTTT NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4058173315 NC_000002.12:192754590::TTTTTTTTTT…

NC_000002.12:192754590::TTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
7840923744 NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4058173316 NC_000002.12:192754590::TTTTTTTTTT…

NC_000002.12:192754590::TTTTTTTTTTTTT

NC_000002.12:192754590:TTTTTTTTTTT…

NC_000002.12:192754590:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs77333990

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