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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.

rs11475966

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:1549371-1549381 (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
delTT / delT / dupT / dupTT / dupT…

delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / ins(T)15G(T)13C(T)15

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.1190 (1049/8816, ALFA)
(T)11=0.4161 (2084/5008, 1000G)
delT=0.2935 (1131/3854, ALSPAC) (+ 4 more)
delT=0.2958 (1097/3708, TWINSUK)
(T)11=0.2303 (422/1832, Korea1K)
delT=0.305 (183/600, NorthernSweden)
delT=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SIRPD : Intron Variant
LOC105372499 : 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 8816 TTTTTTTTTTT=0.8802 TTTTTTTTT=0.0000, TTTTTTTTTT=0.1190, TTTTTTTTTTTT=0.0008, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000 0.790048 0.028175 0.181777 32
European Sub 8066 TTTTTTTTTTT=0.8697 TTTTTTTTT=0.0000, TTTTTTTTTT=0.1294, TTTTTTTTTTTT=0.0009, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000 0.771485 0.030551 0.197963 32
African Sub 314 TTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 4 TTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
African American Sub 310 TTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 TTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 TTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTT=1.0 TTTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 220 TTTTTTTTTTT=1.000 TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 24 TTTTTTTTTTT=1.00 TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 148 TTTTTTTTTTT=0.966 TTTTTTTTT=0.000, TTTTTTTTTT=0.034, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000 0.945946 0.013514 0.040541 6


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 8816 (T)11=0.8802 delTT=0.0000, delT=0.1190, dupT=0.0008, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator European Sub 8066 (T)11=0.8697 delTT=0.0000, delT=0.1294, dupT=0.0009, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0000
Allele Frequency Aggregator African Sub 314 (T)11=1.000 delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 220 (T)11=1.000 delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Other Sub 148 (T)11=0.966 delTT=0.000, delT=0.034, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Latin American 1 Sub 40 (T)11=1.00 delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator South Asian Sub 24 (T)11=1.00 delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Asian Sub 4 (T)11=1.0 delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
1000Genomes Global Study-wide 5008 (T)11=0.4161 delT=0.5721, dupT=0.0118
1000Genomes African Sub 1322 (T)11=0.2443 delT=0.7126, dupT=0.0431
1000Genomes East Asian Sub 1008 (T)11=0.2361 delT=0.7639, dupT=0.0000
1000Genomes Europe Sub 1006 (T)11=0.6531 delT=0.3469, dupT=0.0000
1000Genomes South Asian Sub 978 (T)11=0.479 delT=0.521, dupT=0.000
1000Genomes American Sub 694 (T)11=0.573 delT=0.424, dupT=0.003
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)11=0.7065 delT=0.2935
UK 10K study - Twins TWIN COHORT Study-wide 3708 (T)11=0.7042 delT=0.2958
Korean Genome Project KOREAN Study-wide 1832 (T)11=0.2303 delT=0.7697
Northern Sweden ACPOP Study-wide 600 (T)11=0.695 delT=0.305
The Danish reference pan genome Danish Study-wide 40 (T)11=0.70 delT=0.30
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 20 NC_000020.11:g.1549380_1549381del
GRCh38.p14 chr 20 NC_000020.11:g.1549381del
GRCh38.p14 chr 20 NC_000020.11:g.1549381dup
GRCh38.p14 chr 20 NC_000020.11:g.1549380_1549381dup
GRCh38.p14 chr 20 NC_000020.11:g.1549379_1549381dup
GRCh38.p14 chr 20 NC_000020.11:g.1549378_1549381dup
GRCh38.p14 chr 20 NC_000020.11:g.1549371_1549381T[26]GTTTTTTTTTTTTTCTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.1530026_1530027del
GRCh37.p13 chr 20 NC_000020.10:g.1530027del
GRCh37.p13 chr 20 NC_000020.10:g.1530027dup
GRCh37.p13 chr 20 NC_000020.10:g.1530026_1530027dup
GRCh37.p13 chr 20 NC_000020.10:g.1530025_1530027dup
GRCh37.p13 chr 20 NC_000020.10:g.1530024_1530027dup
GRCh37.p13 chr 20 NC_000020.10:g.1530017_1530027T[26]GTTTTTTTTTTTTTCTTTTTTTTTTTTTTT[1]
Gene: SIRPD, signal regulatory protein delta (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SIRPD transcript variant 1 NM_178460.3:c.421+2319_42…

NM_178460.3:c.421+2319_421+2320del

N/A Intron Variant
SIRPD transcript variant X1 XM_047439883.1:c.421+2319…

XM_047439883.1:c.421+2319_421+2320del

N/A Intron Variant
SIRPD transcript variant X2 XM_047439884.1:c.421+2319…

XM_047439884.1:c.421+2319_421+2320del

N/A Intron Variant
SIRPD transcript variant X3 XM_047439886.1:c.421+2319…

XM_047439886.1:c.421+2319_421+2320del

N/A Intron Variant
SIRPD transcript variant X4 XM_047439887.1:c.313+2319…

XM_047439887.1:c.313+2319_313+2320del

N/A Intron Variant
SIRPD transcript variant X2 XM_047439885.1:c.*73_*83= N/A 3 Prime UTR Variant
SIRPD transcript variant X5 XM_047439888.1:c. N/A Genic Downstream Transcript Variant
Gene: LOC105372499, uncharacterized LOC105372499 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105372499 transcript XR_001754464.2: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)11= delTT delT dupT dupTT dupTTT dup(T)4 ins(T)15G(T)13C(T)15
GRCh38.p14 chr 20 NC_000020.11:g.1549371_1549381= NC_000020.11:g.1549380_1549381del NC_000020.11:g.1549381del NC_000020.11:g.1549381dup NC_000020.11:g.1549380_1549381dup NC_000020.11:g.1549379_1549381dup NC_000020.11:g.1549378_1549381dup NC_000020.11:g.1549371_1549381T[26]GTTTTTTTTTTTTTCTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 20 NC_000020.10:g.1530017_1530027= NC_000020.10:g.1530026_1530027del NC_000020.10:g.1530027del NC_000020.10:g.1530027dup NC_000020.10:g.1530026_1530027dup NC_000020.10:g.1530025_1530027dup NC_000020.10:g.1530024_1530027dup NC_000020.10:g.1530017_1530027T[26]GTTTTTTTTTTTTTCTTTTTTTTTTTTTTT[1]
SIRPD transcript variant X2 XM_047439885.1:c.*73_*83= XM_047439885.1:c.*82_*83del XM_047439885.1:c.*83del XM_047439885.1:c.*83dup XM_047439885.1:c.*82_*83dup XM_047439885.1:c.*81_*83dup XM_047439885.1:c.*80_*83dup XM_047439885.1:c.*73_*83A[15]GAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
SIRPD transcript NM_178460.2:c.421+2320= NM_178460.2:c.421+2319_421+2320del NM_178460.2:c.421+2320del NM_178460.2:c.421+2320dup NM_178460.2:c.421+2319_421+2320dup NM_178460.2:c.421+2318_421+2320dup NM_178460.2:c.421+2317_421+2320dup NM_178460.2:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant 1 NM_178460.3:c.421+2320= NM_178460.3:c.421+2319_421+2320del NM_178460.3:c.421+2320del NM_178460.3:c.421+2320dup NM_178460.3:c.421+2319_421+2320dup NM_178460.3:c.421+2318_421+2320dup NM_178460.3:c.421+2317_421+2320dup NM_178460.3:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant X1 XM_005260662.1:c.421+2320= XM_005260662.1:c.421+2319_421+2320del XM_005260662.1:c.421+2320del XM_005260662.1:c.421+2320dup XM_005260662.1:c.421+2319_421+2320dup XM_005260662.1:c.421+2318_421+2320dup XM_005260662.1:c.421+2317_421+2320dup XM_005260662.1:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant X1 XM_047439883.1:c.421+2320= XM_047439883.1:c.421+2319_421+2320del XM_047439883.1:c.421+2320del XM_047439883.1:c.421+2320dup XM_047439883.1:c.421+2319_421+2320dup XM_047439883.1:c.421+2318_421+2320dup XM_047439883.1:c.421+2317_421+2320dup XM_047439883.1:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant X2 XM_047439884.1:c.421+2320= XM_047439884.1:c.421+2319_421+2320del XM_047439884.1:c.421+2320del XM_047439884.1:c.421+2320dup XM_047439884.1:c.421+2319_421+2320dup XM_047439884.1:c.421+2318_421+2320dup XM_047439884.1:c.421+2317_421+2320dup XM_047439884.1:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant X3 XM_047439886.1:c.421+2320= XM_047439886.1:c.421+2319_421+2320del XM_047439886.1:c.421+2320del XM_047439886.1:c.421+2320dup XM_047439886.1:c.421+2319_421+2320dup XM_047439886.1:c.421+2318_421+2320dup XM_047439886.1:c.421+2317_421+2320dup XM_047439886.1:c.421+2320_421+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
SIRPD transcript variant X4 XM_047439887.1:c.313+2320= XM_047439887.1:c.313+2319_313+2320del XM_047439887.1:c.313+2320del XM_047439887.1:c.313+2320dup XM_047439887.1:c.313+2319_313+2320dup XM_047439887.1:c.313+2318_313+2320dup XM_047439887.1:c.313+2317_313+2320dup XM_047439887.1:c.313+2320_313+2321insAAAAAAAAAAAAAAAGAAAAAAAAAAAAACAAAAAAAAAAAAAAA
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#.

57 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss79952393 Sep 08, 2015 (146)
2 HGSV ss79983797 Sep 08, 2015 (146)
3 HGSV ss80011423 Sep 08, 2015 (146)
4 HGSV ss81077340 Sep 08, 2015 (146)
5 HGSV ss81530652 Sep 08, 2015 (146)
6 HGSV ss82822442 Dec 14, 2007 (129)
7 HGSV ss82999110 Dec 14, 2007 (129)
8 BCMHGSC_JDW ss103646826 Apr 25, 2013 (138)
9 BUSHMAN ss193599861 Jul 04, 2010 (137)
10 GMI ss288530211 May 09, 2011 (137)
11 GMI ss289397916 May 04, 2012 (137)
12 PJP ss295035140 May 09, 2011 (137)
13 PJP ss295035141 May 09, 2011 (134)
14 SSMP ss664463434 Apr 01, 2015 (144)
15 BILGI_BIOE ss666737514 Apr 25, 2013 (138)
16 1000GENOMES ss1378310214 Aug 21, 2014 (142)
17 1000GENOMES ss1378310215 Aug 21, 2014 (142)
18 DDI ss1536899550 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1575662676 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1709270251 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1709270390 Apr 01, 2015 (144)
22 HAMMER_LAB ss1809389672 Sep 08, 2015 (146)
23 JJLAB ss2031417372 Sep 14, 2016 (149)
24 SYSTEMSBIOZJU ss2629379895 Nov 08, 2017 (151)
25 SWEGEN ss3017762399 Nov 08, 2017 (151)
26 MCHAISSO ss3063987373 Nov 08, 2017 (151)
27 BIOINF_KMB_FNS_UNIBA ss3645625129 Oct 12, 2018 (152)
28 EVA_DECODE ss3706428792 Jul 13, 2019 (153)
29 EVA_DECODE ss3706428793 Jul 13, 2019 (153)
30 ACPOP ss3743189971 Jul 13, 2019 (153)
31 PACBIO ss3788580166 Jul 13, 2019 (153)
32 PACBIO ss3793483290 Jul 13, 2019 (153)
33 PACBIO ss3798370440 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3821513474 Jul 13, 2019 (153)
35 KHV_HUMAN_GENOMES ss3821513475 Jul 13, 2019 (153)
36 EVA ss3835551733 Apr 27, 2020 (154)
37 KOGIC ss3981701243 Apr 27, 2020 (154)
38 GNOMAD ss4333998977 Apr 27, 2021 (155)
39 GNOMAD ss4333998978 Apr 27, 2021 (155)
40 GNOMAD ss4333998979 Apr 27, 2021 (155)
41 GNOMAD ss4333998980 Apr 27, 2021 (155)
42 GNOMAD ss4333998981 Apr 27, 2021 (155)
43 GNOMAD ss4333998982 Apr 27, 2021 (155)
44 TOMMO_GENOMICS ss5228554696 Apr 27, 2021 (155)
45 TOMMO_GENOMICS ss5228554697 Apr 27, 2021 (155)
46 1000G_HIGH_COVERAGE ss5307859818 Oct 13, 2022 (156)
47 1000G_HIGH_COVERAGE ss5307859819 Oct 13, 2022 (156)
48 1000G_HIGH_COVERAGE ss5307859820 Oct 13, 2022 (156)
49 1000G_HIGH_COVERAGE ss5307859821 Oct 13, 2022 (156)
50 HUGCELL_USP ss5500282102 Oct 13, 2022 (156)
51 HUGCELL_USP ss5500282103 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5787460983 Oct 13, 2022 (156)
53 TOMMO_GENOMICS ss5787460984 Oct 13, 2022 (156)
54 YY_MCH ss5817759053 Oct 13, 2022 (156)
55 EVA ss5845353499 Oct 13, 2022 (156)
56 EVA ss5853039391 Oct 13, 2022 (156)
57 EVA ss5957630991 Oct 13, 2022 (156)
58 1000Genomes NC_000020.10 - 1530017 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 1530017 Oct 12, 2018 (152)
60 The Danish reference pan genome NC_000020.10 - 1530017 Apr 27, 2020 (154)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 544683101 (NC_000020.11:1549370::T 109/135494)
Row 544683102 (NC_000020.11:1549370::TT 1/135536)
Row 544683103 (NC_000020.11:1549370::TTT 1299/135502)...

- Apr 27, 2021 (155)
68 Korean Genome Project NC_000020.11 - 1549371 Apr 27, 2020 (154)
69 Northern Sweden NC_000020.10 - 1530017 Jul 13, 2019 (153)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 86524003 (NC_000020.10:1530016:T: 12220/16760)
Row 86524004 (NC_000020.10:1530016::T 1/16760)

- Apr 27, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 86524003 (NC_000020.10:1530016:T: 12220/16760)
Row 86524004 (NC_000020.10:1530016::T 1/16760)

- Apr 27, 2021 (155)
72 14KJPN

Submission ignored due to conflicting rows:
Row 121298087 (NC_000020.11:1549370:T: 20631/28258)
Row 121298088 (NC_000020.11:1549370::T 2/28258)

- Oct 13, 2022 (156)
73 14KJPN

Submission ignored due to conflicting rows:
Row 121298087 (NC_000020.11:1549370:T: 20631/28258)
Row 121298088 (NC_000020.11:1549370::T 2/28258)

- Oct 13, 2022 (156)
74 UK 10K study - Twins NC_000020.10 - 1530017 Oct 12, 2018 (152)
75 ALFA NC_000020.11 - 1549371 Apr 27, 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)
rs34932936 May 23, 2006 (127)
rs61458470 May 26, 2008 (130)
rs72425797 May 11, 2012 (137)
rs374974551 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4333998982, ss5307859820 NC_000020.11:1549370:TT: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTT

(self)
ss103646826 NT_011387.8:1470025:TT: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTT

(self)
ss289397916, ss295035140 NC_000020.9:1478016:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss79952393, ss79983797, ss80011423, ss81077340, ss81530652, ss295035141 NC_000020.9:1478026:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
77240423, 42752431, 744870, 16474836, 42752431, ss664463434, ss666737514, ss1378310214, ss1536899550, ss1575662676, ss1709270251, ss1709270390, ss1809389672, ss2031417372, ss2629379895, ss3017762399, ss3743189971, ss3788580166, ss3793483290, ss3798370440, ss3835551733, ss5228554696, ss5845353499, ss5957630991 NC_000020.10:1530016:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
38079244, ss3063987373, ss3645625129, ss3706428792, ss3821513475, ss3981701243, ss5307859818, ss5500282102, ss5787460983, ss5817759053, ss5853039391 NC_000020.11:1549370:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss288530211 NT_011387.8:1470016:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss193599861 NT_011387.9:1489370:T: NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTT

(self)
ss5228554697 NC_000020.10:1530016::T NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
77240423 NC_000020.10:1530016:T:TT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4333998977, ss5307859821, ss5787460984 NC_000020.11:1549370::T NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss3706428793 NC_000020.11:1549371::T NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTT

(self)
ss4333998978 NC_000020.11:1549370::TT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss1378310215 NC_000020.10:1530017::TTT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4333998979, ss5307859819, ss5500282103 NC_000020.11:1549370::TTT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3821513474 NC_000020.11:1549371::TTT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss82822442, ss82999110 NT_011387.8:1470027::TTT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss4333998980 NC_000020.11:1549370::TTTT NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
3178580324 NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4333998981 NC_000020.11:1549370::TTTTTTTTTTTT…

NC_000020.11:1549370::TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTCTTTT

NC_000020.11:1549370:TTTTTTTTTTT:T…

NC_000020.11:1549370:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTT

(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 rs11475966

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