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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.

rs33993661

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr21:37727459-37727475 (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(TG)4 / del(TG)3 / delTGTG / de…

del(TG)4 / del(TG)3 / delTGTG / delTG / dupTG / dupTGTG / dup(TG)3 / dup(TG)4

Variation Type
Indel Insertion and Deletion
Frequency
(GT)8G=0.2771 (1427/5149, ALFA)
(GT)8G=0.3574 (1790/5008, 1000G)
(GT)8G=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCNJ6 : Intron Variant
KCNJ6-AS1 : 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 5149 GTGTGTGTGTGTGTGTG=0.2771 GTGTGTGTG=0.0000, GTGTGTGTGTG=0.0000, GTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTG=0.6980, GTGTGTGTGTGTGTGTGTGTG=0.0249, GTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0000 0.163465 0.588476 0.248059 32
European Sub 4573 GTGTGTGTGTGTGTGTG=0.1876 GTGTGTGTG=0.0000, GTGTGTGTGTG=0.0000, GTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTG=0.7844, GTGTGTGTGTGTGTGTGTGTG=0.0280, GTGTGTGTGTGTGTGTGTGTGTG=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0000 0.053729 0.665586 0.280686 13
African Sub 500 GTGTGTGTGTGTGTGTG=1.000 GTGTGTGTG=0.000, GTGTGTGTGTG=0.000, GTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 GTGTGTGTGTGTGTGTG=1.00 GTGTGTGTG=0.00, GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
African American Sub 488 GTGTGTGTGTGTGTGTG=1.000 GTGTGTGTG=0.000, GTGTGTGTGTG=0.000, GTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTG=0.000, GTGTGTGTGTGTGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
Asian Sub 18 GTGTGTGTGTGTGTGTG=1.00 GTGTGTGTG=0.00, GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
East Asian Sub 12 GTGTGTGTGTGTGTGTG=1.00 GTGTGTGTG=0.00, GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 6 GTGTGTGTGTGTGTGTG=1.0 GTGTGTGTG=0.0, GTGTGTGTGTG=0.0, GTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 8 GTGTGTGTGTGTGTGTG=1.0 GTGTGTGTG=0.0, GTGTGTGTGTG=0.0, GTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 12 GTGTGTGTGTGTGTGTG=1.00 GTGTGTGTG=0.00, GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
South Asian Sub 4 GTGTGTGTGTGTGTGTG=1.0 GTGTGTGTG=0.0, GTGTGTGTGTG=0.0, GTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTG=0.0, GTGTGTGTGTGTGTGTGTGTGTGTG=0.0 1.0 0.0 0.0 N/A
Other Sub 34 GTGTGTGTGTGTGTGTG=0.79 GTGTGTGTG=0.00, GTGTGTGTGTG=0.00, GTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTG=0.21, GTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTG=0.00, GTGTGTGTGTGTGTGTGTGTGTGTG=0.00 0.764706 0.176471 0.058824 7


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 5149 (GT)8G=0.2771 del(TG)4=0.0000, del(TG)3=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.6980, dupTGTG=0.0249, dup(TG)3=0.0000, dup(TG)4=0.0000
Allele Frequency Aggregator European Sub 4573 (GT)8G=0.1876 del(TG)4=0.0000, del(TG)3=0.0000, delTGTG=0.0000, delTG=0.0000, dupTG=0.7844, dupTGTG=0.0280, dup(TG)3=0.0000, dup(TG)4=0.0000
Allele Frequency Aggregator African Sub 500 (GT)8G=1.000 del(TG)4=0.000, del(TG)3=0.000, delTGTG=0.000, delTG=0.000, dupTG=0.000, dupTGTG=0.000, dup(TG)3=0.000, dup(TG)4=0.000
Allele Frequency Aggregator Other Sub 34 (GT)8G=0.79 del(TG)4=0.00, del(TG)3=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.21, dupTGTG=0.00, dup(TG)3=0.00, dup(TG)4=0.00
Allele Frequency Aggregator Asian Sub 18 (GT)8G=1.00 del(TG)4=0.00, del(TG)3=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)3=0.00, dup(TG)4=0.00
Allele Frequency Aggregator Latin American 2 Sub 12 (GT)8G=1.00 del(TG)4=0.00, del(TG)3=0.00, delTGTG=0.00, delTG=0.00, dupTG=0.00, dupTGTG=0.00, dup(TG)3=0.00, dup(TG)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 8 (GT)8G=1.0 del(TG)4=0.0, del(TG)3=0.0, delTGTG=0.0, delTG=0.0, dupTG=0.0, dupTGTG=0.0, dup(TG)3=0.0, dup(TG)4=0.0
Allele Frequency Aggregator South Asian Sub 4 (GT)8G=1.0 del(TG)4=0.0, del(TG)3=0.0, delTGTG=0.0, delTG=0.0, dupTG=0.0, dupTGTG=0.0, dup(TG)3=0.0, dup(TG)4=0.0
1000Genomes Global Study-wide 5008 -

No frequency provided

dupTG=0.6426
1000Genomes African Sub 1322 -

No frequency provided

dupTG=0.4781
1000Genomes East Asian Sub 1008 -

No frequency provided

dupTG=0.5942
1000Genomes Europe Sub 1006 -

No frequency provided

dupTG=0.8062
1000Genomes South Asian Sub 978 -

No frequency provided

dupTG=0.696
1000Genomes American Sub 694 -

No frequency provided

dupTG=0.713
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupTG=0.90
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 21 NC_000021.9:g.37727460TG[4]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[5]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[6]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[7]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[9]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[10]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[11]
GRCh38.p14 chr 21 NC_000021.9:g.37727460TG[12]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[4]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[5]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[6]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[7]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[9]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[10]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[11]
GRCh37.p13 chr 21 NC_000021.8:g.39099763TG[12]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[4]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[5]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[6]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[7]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[9]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[10]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[11]
KCNJ6 RefSeqGene NG_029892.2:g.193920AC[12]
Gene: KCNJ6, potassium inwardly rectifying channel subfamily J member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNJ6 transcript NM_002240.5:c.26-12343AC[…

NM_002240.5:c.26-12343AC[4]

N/A Intron Variant
Gene: KCNJ6-AS1, uncharacterized KCNJ6-AS1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNJ6-AS1 transcript XR_937707.3: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 (GT)8G= del(TG)4 del(TG)3 delTGTG delTG dupTG dupTGTG dup(TG)3 dup(TG)4
GRCh38.p14 chr 21 NC_000021.9:g.37727459_37727475= NC_000021.9:g.37727460TG[4] NC_000021.9:g.37727460TG[5] NC_000021.9:g.37727460TG[6] NC_000021.9:g.37727460TG[7] NC_000021.9:g.37727460TG[9] NC_000021.9:g.37727460TG[10] NC_000021.9:g.37727460TG[11] NC_000021.9:g.37727460TG[12]
GRCh37.p13 chr 21 NC_000021.8:g.39099762_39099778= NC_000021.8:g.39099763TG[4] NC_000021.8:g.39099763TG[5] NC_000021.8:g.39099763TG[6] NC_000021.8:g.39099763TG[7] NC_000021.8:g.39099763TG[9] NC_000021.8:g.39099763TG[10] NC_000021.8:g.39099763TG[11] NC_000021.8:g.39099763TG[12]
KCNJ6 RefSeqGene NG_029892.2:g.193919_193935= NG_029892.2:g.193920AC[4] NG_029892.2:g.193920AC[5] NG_029892.2:g.193920AC[6] NG_029892.2:g.193920AC[7] NG_029892.2:g.193920AC[9] NG_029892.2:g.193920AC[10] NG_029892.2:g.193920AC[11] NG_029892.2:g.193920AC[12]
KCNJ6 transcript NM_002240.3:c.26-12328= NM_002240.3:c.26-12343AC[4] NM_002240.3:c.26-12343AC[5] NM_002240.3:c.26-12343AC[6] NM_002240.3:c.26-12343AC[7] NM_002240.3:c.26-12343AC[9] NM_002240.3:c.26-12343AC[10] NM_002240.3:c.26-12343AC[11] NM_002240.3:c.26-12343AC[12]
KCNJ6 transcript NM_002240.5:c.26-12328= NM_002240.5:c.26-12343AC[4] NM_002240.5:c.26-12343AC[5] NM_002240.5:c.26-12343AC[6] NM_002240.5:c.26-12343AC[7] NM_002240.5:c.26-12343AC[9] NM_002240.5:c.26-12343AC[10] NM_002240.5:c.26-12343AC[11] NM_002240.5:c.26-12343AC[12]
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#.

64 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95751509 Dec 03, 2013 (138)
2 BCMHGSC_JDW ss103864983 Dec 06, 2013 (138)
3 BL ss256200476 May 09, 2011 (138)
4 GMI ss288549857 Dec 06, 2013 (138)
5 GMI ss289435000 Oct 12, 2018 (152)
6 1000GENOMES ss327987156 May 09, 2011 (138)
7 1000GENOMES ss328092142 May 09, 2011 (138)
8 LUNTER ss552698849 Apr 25, 2013 (138)
9 LUNTER ss553118632 Apr 25, 2013 (138)
10 LUNTER ss553695191 Apr 25, 2013 (138)
11 SSMP ss664507624 Apr 01, 2015 (144)
12 BILGI_BIOE ss666763010 Apr 25, 2013 (138)
13 1000GENOMES ss1378796718 Aug 21, 2014 (142)
14 DDI ss1536923210 Apr 01, 2015 (144)
15 EVA_GENOME_DK ss1575782111 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1709503757 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1709503758 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1709505747 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1709505748 Apr 01, 2015 (144)
20 HAMMER_LAB ss1809685934 Sep 08, 2015 (146)
21 SWEGEN ss3018892257 Nov 08, 2017 (151)
22 SWEGEN ss3018892258 Nov 08, 2017 (151)
23 MCHAISSO ss3064016691 Nov 08, 2017 (151)
24 MCHAISSO ss3064875296 Nov 08, 2017 (151)
25 MCHAISSO ss3065841787 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3645669308 Oct 12, 2018 (152)
27 URBANLAB ss3651115125 Oct 12, 2018 (152)
28 EVA_DECODE ss3707731462 Jul 13, 2019 (153)
29 EVA_DECODE ss3707731463 Jul 13, 2019 (153)
30 EVA_DECODE ss3707731464 Jul 13, 2019 (153)
31 EVA_DECODE ss3707731467 Jul 13, 2019 (153)
32 ACPOP ss3743731884 Jul 13, 2019 (153)
33 ACPOP ss3743731885 Jul 13, 2019 (153)
34 PACBIO ss3788762307 Jul 13, 2019 (153)
35 PACBIO ss3793636431 Jul 13, 2019 (153)
36 PACBIO ss3798522651 Jul 13, 2019 (153)
37 KHV_HUMAN_GENOMES ss3822273676 Jul 13, 2019 (153)
38 EVA ss3835873832 Apr 27, 2020 (154)
39 KOGIC ss3983096146 Apr 27, 2020 (154)
40 KOGIC ss3983096147 Apr 27, 2020 (154)
41 KOGIC ss3983096148 Apr 27, 2020 (154)
42 GNOMAD ss4360327916 Apr 27, 2021 (155)
43 GNOMAD ss4360327917 Apr 27, 2021 (155)
44 GNOMAD ss4360327918 Apr 27, 2021 (155)
45 GNOMAD ss4360327920 Apr 27, 2021 (155)
46 GNOMAD ss4360327921 Apr 27, 2021 (155)
47 GNOMAD ss4360327922 Apr 27, 2021 (155)
48 TOMMO_GENOMICS ss5231534360 Apr 27, 2021 (155)
49 TOMMO_GENOMICS ss5231534361 Apr 27, 2021 (155)
50 TOMMO_GENOMICS ss5231534362 Apr 27, 2021 (155)
51 1000G_HIGH_COVERAGE ss5310219541 Oct 13, 2022 (156)
52 1000G_HIGH_COVERAGE ss5310219542 Oct 13, 2022 (156)
53 HUGCELL_USP ss5502266546 Oct 13, 2022 (156)
54 HUGCELL_USP ss5502266547 Oct 13, 2022 (156)
55 HUGCELL_USP ss5502266548 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5792047822 Oct 13, 2022 (156)
57 TOMMO_GENOMICS ss5792047824 Oct 13, 2022 (156)
58 TOMMO_GENOMICS ss5792047825 Oct 13, 2022 (156)
59 TOMMO_GENOMICS ss5792047826 Oct 13, 2022 (156)
60 TOMMO_GENOMICS ss5792047827 Oct 13, 2022 (156)
61 YY_MCH ss5818444028 Oct 13, 2022 (156)
62 EVA ss5839041048 Oct 13, 2022 (156)
63 EVA ss5839041049 Oct 13, 2022 (156)
64 EVA ss5853304905 Oct 13, 2022 (156)
65 1000Genomes NC_000021.8 - 39099762 Oct 12, 2018 (152)
66 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44168516 (NC_000021.8:39099761::GT 3190/3854)
Row 44168517 (NC_000021.8:39099761::GTGT 80/3854)

- Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 44168516 (NC_000021.8:39099761::GT 3190/3854)
Row 44168517 (NC_000021.8:39099761::GTGT 80/3854)

- Oct 12, 2018 (152)
68 The Danish reference pan genome NC_000021.8 - 39099762 Apr 27, 2020 (154)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

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

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

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

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

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

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

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

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

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

Submission ignored due to conflicting rows:
Row 563208600 (NC_000021.9:37727458::GT 104510/136168)
Row 563208601 (NC_000021.9:37727458::GTGT 1884/136136)
Row 563208602 (NC_000021.9:37727458::GTGTGT 7/136260)...

- Apr 27, 2021 (155)
75 Korean Genome Project

Submission ignored due to conflicting rows:
Row 39474147 (NC_000021.9:37727464::GT 1061/1832)
Row 39474148 (NC_000021.9:37727464::GTGT 5/1832)
Row 39474149 (NC_000021.9:37727458:GTGTGT: 1/1832)

- Apr 27, 2020 (154)
76 Korean Genome Project

Submission ignored due to conflicting rows:
Row 39474147 (NC_000021.9:37727464::GT 1061/1832)
Row 39474148 (NC_000021.9:37727464::GTGT 5/1832)
Row 39474149 (NC_000021.9:37727458:GTGTGT: 1/1832)

- Apr 27, 2020 (154)
77 Korean Genome Project

Submission ignored due to conflicting rows:
Row 39474147 (NC_000021.9:37727464::GT 1061/1832)
Row 39474148 (NC_000021.9:37727464::GTGT 5/1832)
Row 39474149 (NC_000021.9:37727458:GTGTGT: 1/1832)

- Apr 27, 2020 (154)
78 Northern Sweden

Submission ignored due to conflicting rows:
Row 17016749 (NC_000021.8:39099761::GT 494/600)
Row 17016750 (NC_000021.8:39099761::GTGT 4/600)

- Jul 13, 2019 (153)
79 Northern Sweden

Submission ignored due to conflicting rows:
Row 17016749 (NC_000021.8:39099761::GT 494/600)
Row 17016750 (NC_000021.8:39099761::GTGT 4/600)

- Jul 13, 2019 (153)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 89503667 (NC_000021.8:39099761::GT 9814/16760)
Row 89503668 (NC_000021.8:39099761::GTGT 37/16760)
Row 89503669 (NC_000021.8:39099761:GTGTGT: 1/16760)

- Apr 27, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 89503667 (NC_000021.8:39099761::GT 9814/16760)
Row 89503668 (NC_000021.8:39099761::GTGT 37/16760)
Row 89503669 (NC_000021.8:39099761:GTGTGT: 1/16760)

- Apr 27, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 89503667 (NC_000021.8:39099761::GT 9814/16760)
Row 89503668 (NC_000021.8:39099761::GTGT 37/16760)
Row 89503669 (NC_000021.8:39099761:GTGTGT: 1/16760)

- Apr 27, 2021 (155)
83 14KJPN

Submission ignored due to conflicting rows:
Row 125884926 (NC_000021.9:37727458::GT 15952/28178)
Row 125884928 (NC_000021.9:37727458::GTGT 62/28178)
Row 125884929 (NC_000021.9:37727458:GT: 1/28178)...

- Oct 13, 2022 (156)
84 14KJPN

Submission ignored due to conflicting rows:
Row 125884926 (NC_000021.9:37727458::GT 15952/28178)
Row 125884928 (NC_000021.9:37727458::GTGT 62/28178)
Row 125884929 (NC_000021.9:37727458:GT: 1/28178)...

- Oct 13, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 125884926 (NC_000021.9:37727458::GT 15952/28178)
Row 125884928 (NC_000021.9:37727458::GTGT 62/28178)
Row 125884929 (NC_000021.9:37727458:GT: 1/28178)...

- Oct 13, 2022 (156)
86 14KJPN

Submission ignored due to conflicting rows:
Row 125884926 (NC_000021.9:37727458::GT 15952/28178)
Row 125884928 (NC_000021.9:37727458::GTGT 62/28178)
Row 125884929 (NC_000021.9:37727458:GT: 1/28178)...

- Oct 13, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 125884926 (NC_000021.9:37727458::GT 15952/28178)
Row 125884928 (NC_000021.9:37727458::GTGT 62/28178)
Row 125884929 (NC_000021.9:37727458:GT: 1/28178)...

- Oct 13, 2022 (156)
88 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44168516 (NC_000021.8:39099761::GT 3105/3708)
Row 44168517 (NC_000021.8:39099761::GTGT 83/3708)

- Oct 12, 2018 (152)
89 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 44168516 (NC_000021.8:39099761::GT 3105/3708)
Row 44168517 (NC_000021.8:39099761::GTGT 83/3708)

- Oct 12, 2018 (152)
90 ALFA NC_000021.9 - 37727459 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)
rs147533871 Apr 25, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4360327922 NC_000021.9:37727458:GTGTGTGT: NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTG

(self)
ss5231534362 NC_000021.8:39099761:GTGTGT: NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG

(self)
ss3983096148, ss5792047826 NC_000021.9:37727458:GTGTGT: NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTG

(self)
ss4360327921 NC_000021.9:37727458:GTGT: NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG

(self)
ss3707731464, ss4360327920, ss5502266548, ss5792047825 NC_000021.9:37727458:GT: NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG

(self)
ss256200476, ss327987156, ss328092142, ss552698849, ss553118632, ss553695191 NC_000021.7:38021631::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss289435000 NC_000021.7:38021648::TG NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
79808146, 782428, ss664507624, ss666763010, ss1378796718, ss1536923210, ss1575782111, ss1709503757, ss1709505747, ss1809685934, ss3018892257, ss3743731884, ss3788762307, ss3793636431, ss3798522651, ss3835873832, ss5231534360, ss5839041048 NC_000021.8:39099761::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss3064016691, ss3064875296, ss3065841787, ss3645669308, ss3651115125, ss3822273676, ss4360327916, ss5310219541, ss5502266546, ss5792047822, ss5818444028, ss5853304905 NC_000021.9:37727458::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss3707731463 NC_000021.9:37727460::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss3983096146 NC_000021.9:37727464::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss3707731467 NC_000021.9:37727472::GT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss95751509, ss103864983, ss288549857 NT_011512.11:24761649::TG NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG

(self)
ss1709503758, ss1709505748, ss3018892258, ss3743731885, ss5231534361, ss5839041049 NC_000021.8:39099761::GTGT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

(self)
ss4360327917, ss5310219542, ss5502266547, ss5792047824 NC_000021.9:37727458::GTGT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

(self)
ss3707731462 NC_000021.9:37727460::GTGT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

(self)
ss3983096147 NC_000021.9:37727464::GTGT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG

(self)
ss4360327918, ss5792047827 NC_000021.9:37727458::GTGTGT NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG

(self)
3130895866 NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG

NC_000021.9:37727458:GTGTGTGTGTGTG…

NC_000021.9:37727458:GTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG

(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 rs33993661

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