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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.

rs5777007

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:110242255-110242262 (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
delGGG / delGG / delG / dupG / dup…

delGGG / delGG / delG / dupG / dupGG / dupGGG / dup(G)4

Variation Type
Indel Insertion and Deletion
Frequency
(G)8=0.341090 (90283/264690, TOPMED)
(G)8=0.3177 (2527/7954, ALFA)
(G)8=0.1583 (709/4480, Estonian) (+ 5 more)
(G)8=0.2291 (883/3854, ALSPAC)
(G)8=0.2319 (860/3708, TWINSUK)
(G)8=0.0101 (32/3182, 1000G)
(G)8=0.228 (137/600, NorthernSweden)
(G)8=0.23 (9/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KCNC4 : 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 7954 GGGGGGGG=0.3177 GGGGG=0.0000, GGGGGG=0.0000, GGGGGGG=0.6823, GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000 0.193613 0.55821 0.248177 32
European Sub 6946 GGGGGGGG=0.2283 GGGGG=0.0000, GGGGGG=0.0000, GGGGGGG=0.7717, GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000 0.090124 0.633458 0.276418 32
African Sub 828 GGGGGGGG=0.955 GGGGG=0.000, GGGGGG=0.000, GGGGGGG=0.045, GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000 0.932367 0.021739 0.045894 32
African Others Sub 40 GGGGGGGG=0.93 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.07, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 0.9 0.05 0.05 5
African American Sub 788 GGGGGGGG=0.957 GGGGG=0.000, GGGGGG=0.000, GGGGGGG=0.043, GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000 0.93401 0.020305 0.045685 32
Asian Sub 18 GGGGGGGG=0.83 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.17, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 0.777778 0.111111 0.111111 2
East Asian Sub 14 GGGGGGGG=0.86 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.14, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 0.857143 0.142857 0.0 4
Other Asian Sub 4 GGGGGGGG=0.8 GGGGG=0.0, GGGGGG=0.0, GGGGGGG=0.2, GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0 0.5 0.0 0.5 0
Latin American 1 Sub 16 GGGGGGGG=1.00 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.00, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 44 GGGGGGGG=1.00 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.00, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 1.0 0.0 0.0 N/A
South Asian Sub 8 GGGGGGGG=0.6 GGGGG=0.0, GGGGGG=0.0, GGGGGGG=0.4, GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0 0.5 0.25 0.25 1
Other Sub 94 GGGGGGGG=0.74 GGGGG=0.00, GGGGGG=0.00, GGGGGGG=0.26, GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00 0.680851 0.191489 0.12766 12


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
TopMed Global Study-wide 264690 (G)8=0.341090 delG=0.658910
Allele Frequency Aggregator Total Global 7954 (G)8=0.3177 delGGG=0.0000, delGG=0.0000, delG=0.6823, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)4=0.0000
Allele Frequency Aggregator European Sub 6946 (G)8=0.2283 delGGG=0.0000, delGG=0.0000, delG=0.7717, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000, dup(G)4=0.0000
Allele Frequency Aggregator African Sub 828 (G)8=0.955 delGGG=0.000, delGG=0.000, delG=0.045, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)4=0.000
Allele Frequency Aggregator Other Sub 94 (G)8=0.74 delGGG=0.00, delGG=0.00, delG=0.26, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Latin American 2 Sub 44 (G)8=1.00 delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Asian Sub 18 (G)8=0.83 delGGG=0.00, delGG=0.00, delG=0.17, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 16 (G)8=1.00 delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)4=0.00
Allele Frequency Aggregator South Asian Sub 8 (G)8=0.6 delGGG=0.0, delGG=0.0, delG=0.4, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)4=0.0
Genetic variation in the Estonian population Estonian Study-wide 4480 (G)8=0.1583 delG=0.8417
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (G)8=0.2291 delG=0.7709
UK 10K study - Twins TWIN COHORT Study-wide 3708 (G)8=0.2319 delG=0.7681
1000Genomes Global Study-wide 3182 (G)8=0.0101 delG=0.9899
1000Genomes South Asian Sub 796 (G)8=0.000 delG=1.000
1000Genomes Europe Sub 746 (G)8=0.000 delG=1.000
1000Genomes East Asian Sub 590 (G)8=0.000 delG=1.000
1000Genomes American Sub 535 (G)8=0.000 delG=1.000
1000Genomes African Sub 515 (G)8=0.062 delG=0.938
Northern Sweden ACPOP Study-wide 600 (G)8=0.228 delG=0.772
The Danish reference pan genome Danish Study-wide 40 (G)8=0.23 delG=0.78
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.110242260_110242262del
GRCh38.p14 chr 1 NC_000001.11:g.110242261_110242262del
GRCh38.p14 chr 1 NC_000001.11:g.110242262del
GRCh38.p14 chr 1 NC_000001.11:g.110242262dup
GRCh38.p14 chr 1 NC_000001.11:g.110242261_110242262dup
GRCh38.p14 chr 1 NC_000001.11:g.110242260_110242262dup
GRCh38.p14 chr 1 NC_000001.11:g.110242259_110242262dup
GRCh37.p13 chr 1 NC_000001.10:g.110784882_110784884del
GRCh37.p13 chr 1 NC_000001.10:g.110784883_110784884del
GRCh37.p13 chr 1 NC_000001.10:g.110784884del
GRCh37.p13 chr 1 NC_000001.10:g.110784884dup
GRCh37.p13 chr 1 NC_000001.10:g.110784883_110784884dup
GRCh37.p13 chr 1 NC_000001.10:g.110784882_110784884dup
GRCh37.p13 chr 1 NC_000001.10:g.110784881_110784884dup
Gene: KCNC4, potassium voltage-gated channel subfamily C member 4 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KCNC4 transcript variant 3 NM_001039574.3:c. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant 5 NM_001377330.1:c. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant 6 NM_001377331.1:c. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant 1 NM_004978.6:c. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant 4 NR_036437.2:n. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant X1 XM_006710625.5:c.1819+160…

XM_006710625.5:c.1819+16082_1819+16084del

N/A Intron Variant
KCNC4 transcript variant X2 XM_011541401.4:c.1820-498…

XM_011541401.4:c.1820-4989_1820-4987del

N/A Intron Variant
KCNC4 transcript variant X3 XM_047419679.1:c.882+1608…

XM_047419679.1:c.882+16082_882+16084del

N/A Intron Variant
KCNC4 transcript variant X5 XM_047419680.1:c.883-4989…

XM_047419680.1:c.883-4989_883-4987del

N/A Intron Variant
KCNC4 transcript variant X4 XM_011541404.3:c. N/A Genic Downstream Transcript Variant
KCNC4 transcript variant X6 XM_024446790.2:c. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (G)8= delGGG delGG delG dupG dupGG dupGGG dup(G)4
GRCh38.p14 chr 1 NC_000001.11:g.110242255_110242262= NC_000001.11:g.110242260_110242262del NC_000001.11:g.110242261_110242262del NC_000001.11:g.110242262del NC_000001.11:g.110242262dup NC_000001.11:g.110242261_110242262dup NC_000001.11:g.110242260_110242262dup NC_000001.11:g.110242259_110242262dup
GRCh37.p13 chr 1 NC_000001.10:g.110784877_110784884= NC_000001.10:g.110784882_110784884del NC_000001.10:g.110784883_110784884del NC_000001.10:g.110784884del NC_000001.10:g.110784884dup NC_000001.10:g.110784883_110784884dup NC_000001.10:g.110784882_110784884dup NC_000001.10:g.110784881_110784884dup
KCNC4 transcript variant 1 NM_004978.5:c.*9946_*9953= NM_004978.5:c.*9951_*9953del NM_004978.5:c.*9952_*9953del NM_004978.5:c.*9953del NM_004978.5:c.*9953dup NM_004978.5:c.*9952_*9953dup NM_004978.5:c.*9951_*9953dup NM_004978.5:c.*9950_*9953dup
KCNC4 transcript variant X1 XM_006710625.5:c.1819+16077= XM_006710625.5:c.1819+16082_1819+16084del XM_006710625.5:c.1819+16083_1819+16084del XM_006710625.5:c.1819+16084del XM_006710625.5:c.1819+16084dup XM_006710625.5:c.1819+16083_1819+16084dup XM_006710625.5:c.1819+16082_1819+16084dup XM_006710625.5:c.1819+16081_1819+16084dup
KCNC4 transcript variant X2 XM_011541401.4:c.1820-4994= XM_011541401.4:c.1820-4989_1820-4987del XM_011541401.4:c.1820-4988_1820-4987del XM_011541401.4:c.1820-4987del XM_011541401.4:c.1820-4987dup XM_011541401.4:c.1820-4988_1820-4987dup XM_011541401.4:c.1820-4989_1820-4987dup XM_011541401.4:c.1820-4990_1820-4987dup
KCNC4 transcript variant X3 XM_047419679.1:c.882+16077= XM_047419679.1:c.882+16082_882+16084del XM_047419679.1:c.882+16083_882+16084del XM_047419679.1:c.882+16084del XM_047419679.1:c.882+16084dup XM_047419679.1:c.882+16083_882+16084dup XM_047419679.1:c.882+16082_882+16084dup XM_047419679.1:c.882+16081_882+16084dup
KCNC4 transcript variant X5 XM_047419680.1:c.883-4994= XM_047419680.1:c.883-4989_883-4987del XM_047419680.1:c.883-4988_883-4987del XM_047419680.1:c.883-4987del XM_047419680.1:c.883-4987dup XM_047419680.1:c.883-4988_883-4987dup XM_047419680.1:c.883-4989_883-4987dup XM_047419680.1:c.883-4990_883-4987dup
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#.

69 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 DEVINE_LAB ss8034758 Mar 15, 2016 (147)
2 HGSV ss81790923 Dec 14, 2007 (130)
3 HGSV ss81952048 Dec 14, 2007 (130)
4 HUMANGENOME_JCVI ss95240191 Feb 04, 2009 (130)
5 BCMHGSC_JDW ss103489016 Mar 15, 2016 (147)
6 BUSHMAN ss193121342 Jul 04, 2010 (132)
7 BL ss255935250 May 09, 2011 (137)
8 GMI ss287679228 May 09, 2011 (134)
9 GMI ss288026203 May 04, 2012 (137)
10 PJP ss294598114 May 09, 2011 (134)
11 PJP ss294598115 May 09, 2011 (134)
12 1000GENOMES ss326075541 May 09, 2011 (137)
13 1000GENOMES ss326078030 May 09, 2011 (137)
14 1000GENOMES ss326103303 May 09, 2011 (137)
15 LUNTER ss550970948 Apr 25, 2013 (138)
16 LUNTER ss550984603 Apr 25, 2013 (138)
17 LUNTER ss552797116 Apr 25, 2013 (138)
18 TISHKOFF ss553769665 Apr 25, 2013 (138)
19 SSMP ss663109467 Apr 01, 2015 (144)
20 1000GENOMES ss1367814479 Aug 21, 2014 (142)
21 1000GENOMES ss1367814480 Aug 21, 2014 (142)
22 1000GENOMES ss1367814481 Aug 21, 2014 (142)
23 DDI ss1536243814 Apr 01, 2015 (144)
24 EVA_GENOME_DK ss1574006944 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1701096771 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1701096773 Apr 01, 2015 (144)
27 HAMMER_LAB ss1794920396 Sep 08, 2015 (146)
28 HAMMER_LAB ss1794920398 Sep 08, 2015 (146)
29 JJLAB ss2030342864 Sep 14, 2016 (149)
30 SYSTEMSBIOZJU ss2624462301 Nov 08, 2017 (151)
31 SWEGEN ss2987427368 Nov 08, 2017 (151)
32 MCHAISSO ss3063603336 Nov 08, 2017 (151)
33 MCHAISSO ss3064418685 Nov 08, 2017 (151)
34 MCHAISSO ss3065321307 Nov 08, 2017 (151)
35 BEROUKHIMLAB ss3644066907 Oct 11, 2018 (152)
36 BIOINF_KMB_FNS_UNIBA ss3645065505 Oct 11, 2018 (152)
37 URBANLAB ss3646750607 Oct 11, 2018 (152)
38 EGCUT_WGS ss3655515513 Jul 12, 2019 (153)
39 EVA_DECODE ss3687516594 Jul 12, 2019 (153)
40 EVA_DECODE ss3687516595 Jul 12, 2019 (153)
41 ACPOP ss3727382818 Jul 12, 2019 (153)
42 PACBIO ss3783517329 Jul 12, 2019 (153)
43 PACBIO ss3789159447 Jul 12, 2019 (153)
44 PACBIO ss3794032359 Jul 12, 2019 (153)
45 KHV_HUMAN_GENOMES ss3799667278 Jul 12, 2019 (153)
46 KHV_HUMAN_GENOMES ss3799667279 Jul 12, 2019 (153)
47 EVA ss3826365467 Apr 25, 2020 (154)
48 EVA ss3836574173 Apr 25, 2020 (154)
49 EVA ss3841982487 Apr 25, 2020 (154)
50 KOGIC ss3945233239 Apr 25, 2020 (154)
51 KOGIC ss3945233240 Apr 25, 2020 (154)
52 GNOMAD ss4000320500 Apr 25, 2021 (155)
53 GNOMAD ss4000320501 Apr 25, 2021 (155)
54 GNOMAD ss4000320502 Apr 25, 2021 (155)
55 GNOMAD ss4000320503 Apr 25, 2021 (155)
56 GNOMAD ss4000320504 Apr 25, 2021 (155)
57 TOPMED ss4463360784 Apr 25, 2021 (155)
58 TOMMO_GENOMICS ss5145650282 Apr 25, 2021 (155)
59 TOMMO_GENOMICS ss5145650283 Apr 25, 2021 (155)
60 1000G_HIGH_COVERAGE ss5243585789 Oct 12, 2022 (156)
61 1000G_HIGH_COVERAGE ss5243585790 Oct 12, 2022 (156)
62 1000G_HIGH_COVERAGE ss5243585791 Oct 12, 2022 (156)
63 HUGCELL_USP ss5444511940 Oct 12, 2022 (156)
64 HUGCELL_USP ss5444511941 Oct 12, 2022 (156)
65 HUGCELL_USP ss5444511942 Oct 12, 2022 (156)
66 TOMMO_GENOMICS ss5670909114 Oct 12, 2022 (156)
67 TOMMO_GENOMICS ss5670909115 Oct 12, 2022 (156)
68 EVA ss5832474324 Oct 12, 2022 (156)
69 EVA ss5938149915 Oct 12, 2022 (156)
70 1000Genomes NC_000001.10 - 110784877 Oct 11, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 110784877 Oct 11, 2018 (152)
72 Genetic variation in the Estonian population NC_000001.10 - 110784877 Oct 11, 2018 (152)
73 The Danish reference pan genome NC_000001.10 - 110784877 Apr 25, 2020 (154)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22493231 (NC_000001.11:110242254::G 594/139840)
Row 22493232 (NC_000001.11:110242254::GG 896/139820)
Row 22493233 (NC_000001.11:110242254::GGG 7/139840)...

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

Submission ignored due to conflicting rows:
Row 22493231 (NC_000001.11:110242254::G 594/139840)
Row 22493232 (NC_000001.11:110242254::GG 896/139820)
Row 22493233 (NC_000001.11:110242254::GGG 7/139840)...

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

Submission ignored due to conflicting rows:
Row 22493231 (NC_000001.11:110242254::G 594/139840)
Row 22493232 (NC_000001.11:110242254::GG 896/139820)
Row 22493233 (NC_000001.11:110242254::GGG 7/139840)...

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

Submission ignored due to conflicting rows:
Row 22493231 (NC_000001.11:110242254::G 594/139840)
Row 22493232 (NC_000001.11:110242254::GG 896/139820)
Row 22493233 (NC_000001.11:110242254::GGG 7/139840)...

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

Submission ignored due to conflicting rows:
Row 22493231 (NC_000001.11:110242254::G 594/139840)
Row 22493232 (NC_000001.11:110242254::GG 896/139820)
Row 22493233 (NC_000001.11:110242254::GGG 7/139840)...

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

Submission ignored due to conflicting rows:
Row 1611240 (NC_000001.11:110242254:G: 933/1832)
Row 1611241 (NC_000001.11:110242255::G 28/1832)

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

Submission ignored due to conflicting rows:
Row 1611240 (NC_000001.11:110242254:G: 933/1832)
Row 1611241 (NC_000001.11:110242255::G 28/1832)

- Apr 25, 2020 (154)
81 Northern Sweden NC_000001.10 - 110784877 Jul 12, 2019 (153)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 3619589 (NC_000001.10:110784876:G: 9358/16760)
Row 3619590 (NC_000001.10:110784876::G 96/16760)

- Apr 25, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 3619589 (NC_000001.10:110784876:G: 9358/16760)
Row 3619590 (NC_000001.10:110784876::G 96/16760)

- Apr 25, 2021 (155)
84 14KJPN

Submission ignored due to conflicting rows:
Row 4746218 (NC_000001.11:110242254:G: 15816/28256)
Row 4746219 (NC_000001.11:110242254::G 166/28256)

- Oct 12, 2022 (156)
85 14KJPN

Submission ignored due to conflicting rows:
Row 4746218 (NC_000001.11:110242254:G: 15816/28256)
Row 4746219 (NC_000001.11:110242254::G 166/28256)

- Oct 12, 2022 (156)
86 TopMed NC_000001.11 - 110242255 Apr 25, 2021 (155)
87 UK 10K study - Twins NC_000001.10 - 110784877 Oct 11, 2018 (152)
88 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 380776 (NC_000001.10:110784876::G 3/87)
Row 380777 (NC_000001.10:110784876:G: 127/211)

- Jul 12, 2019 (153)
89 A Vietnamese Genetic Variation Database

Submission ignored due to conflicting rows:
Row 380776 (NC_000001.10:110784876::G 3/87)
Row 380777 (NC_000001.10:110784876:G: 127/211)

- Jul 12, 2019 (153)
90 ALFA NC_000001.11 - 110242255 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs33984097 Oct 15, 2006 (127)
rs57525597 May 23, 2008 (130)
rs79145526 Oct 04, 2011 (135)
rs376105739 May 13, 2013 (138)
rs869088300 Jul 19, 2016 (147)
rs68140966 Feb 27, 2009 (130)
rs68140967 Feb 27, 2009 (130)
rs147778817 May 04, 2012 (137)
rs376981379 May 13, 2013 (138)
rs993403758 Nov 08, 2017 (151)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGG

(self)
ss103489016 NT_032977.9:80756800:GG: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGG

(self)
ss81790923, ss81952048 NC_000001.8:110496925:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss255935250, ss288026203, ss294598114, ss326075541, ss326078030, ss326103303, ss550970948, ss550984603, ss552797116 NC_000001.9:110586399:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss294598115 NC_000001.9:110586406:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
3179769, 1756852, 1253761, 165896, 667683, 1756852, ss663109467, ss1367814479, ss1536243814, ss1574006944, ss1701096771, ss1701096773, ss1794920398, ss2030342864, ss2624462301, ss2987427368, ss3644066907, ss3655515513, ss3727382818, ss3783517329, ss3789159447, ss3794032359, ss3826365467, ss3836574173, ss5145650282, ss5832474324, ss5938149915 NC_000001.10:110784876:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss553769665 NC_000001.10:110784883:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
26967119, ss3063603336, ss3064418685, ss3065321307, ss3645065505, ss3646750607, ss3687516595, ss3799667279, ss3841982487, ss3945233239, ss4000320504, ss4463360784, ss5243585789, ss5444511940, ss5670909114 NC_000001.11:110242254:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss287679228 NT_032977.9:80756794:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss8034758, ss95240191 NT_032977.9:80756801:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss193121342 NT_032977.10:109656266:G: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGG

(self)
ss5145650283 NC_000001.10:110784876::G NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

(self)
ss1367814480 NC_000001.10:110784877::G NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

(self)
ss4000320500, ss5243585791, ss5444511941, ss5670909115 NC_000001.11:110242254::G NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

(self)
ss3687516594, ss3799667278, ss3945233240 NC_000001.11:110242255::G NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGG

(self)
ss1794920396 NC_000001.10:110784876::GG NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG

(self)
ss1367814481 NC_000001.10:110784877::GG NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG

(self)
ss4000320501, ss5243585790, ss5444511942 NC_000001.11:110242254::GG NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGG

(self)
ss4000320502 NC_000001.11:110242254::GGG NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGG

(self)
ss4000320503 NC_000001.11:110242254::GGGG NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGGG

(self)
8791504537 NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGGG

NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGGGGGGGG

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3086629138 NC_000001.11:110242254:GG: NC_000001.11:110242254:GGGGGGGG:GG…

NC_000001.11:110242254:GGGGGGGG:GGGGGG

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 rs5777007

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