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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.

rs57319081

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:46103453 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.093385 (24718/264690, TOPMED)
C=0.090934 (12728/139970, GnomAD)
C=0.10719 (8435/78690, PAGE_STUDY) (+ 15 more)
C=0.33272 (9402/28258, 14KJPN)
C=0.10064 (1901/18890, ALFA)
C=0.32888 (5512/16760, 8.3KJPN)
C=0.1224 (784/6404, 1000G_30x)
C=0.1254 (628/5008, 1000G)
C=0.0937 (361/3854, ALSPAC)
C=0.1057 (392/3708, TWINSUK)
C=0.2932 (859/2930, KOREAN)
C=0.106 (106/998, GoNL)
C=0.105 (63/600, NorthernSweden)
C=0.218 (47/216, Qatari)
C=0.299 (64/214, Vietnamese)
G=0.405 (64/158, SGDP_PRJ)
C=0.17 (7/40, GENOME_DK)
G=0.44 (7/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KANSL1 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 G=0.89936 C=0.10064
European Sub 14286 G=0.88604 C=0.11396
African Sub 2946 G=0.9776 C=0.0224
African Others Sub 114 G=0.974 C=0.026
African American Sub 2832 G=0.9778 C=0.0222
Asian Sub 112 G=0.759 C=0.241
East Asian Sub 86 G=0.76 C=0.24
Other Asian Sub 26 G=0.77 C=0.23
Latin American 1 Sub 146 G=0.829 C=0.171
Latin American 2 Sub 610 G=0.889 C=0.111
South Asian Sub 98 G=0.87 C=0.13
Other Sub 692 G=0.893 C=0.107


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=0.906615 C=0.093385
gnomAD - Genomes Global Study-wide 139970 G=0.909066 C=0.090934
gnomAD - Genomes European Sub 75774 G=0.88856 C=0.11144
gnomAD - Genomes African Sub 41990 G=0.97383 C=0.02617
gnomAD - Genomes American Sub 13614 G=0.87755 C=0.12245
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9073 C=0.0927
gnomAD - Genomes East Asian Sub 3126 G=0.6958 C=0.3042
gnomAD - Genomes Other Sub 2142 G=0.8791 C=0.1209
The PAGE Study Global Study-wide 78690 G=0.89281 C=0.10719
The PAGE Study AfricanAmerican Sub 32516 G=0.97171 C=0.02829
The PAGE Study Mexican Sub 10806 G=0.88803 C=0.11197
The PAGE Study Asian Sub 8316 G=0.6887 C=0.3113
The PAGE Study PuertoRican Sub 7916 G=0.8725 C=0.1275
The PAGE Study NativeHawaiian Sub 4534 G=0.7247 C=0.2753
The PAGE Study Cuban Sub 4230 G=0.8946 C=0.1054
The PAGE Study Dominican Sub 3826 G=0.9258 C=0.0742
The PAGE Study CentralAmerican Sub 2450 G=0.8849 C=0.1151
The PAGE Study SouthAmerican Sub 1982 G=0.8794 C=0.1206
The PAGE Study NativeAmerican Sub 1260 G=0.9159 C=0.0841
The PAGE Study SouthAsian Sub 854 G=0.881 C=0.119
14KJPN JAPANESE Study-wide 28258 G=0.66728 C=0.33272
Allele Frequency Aggregator Total Global 18890 G=0.89936 C=0.10064
Allele Frequency Aggregator European Sub 14286 G=0.88604 C=0.11396
Allele Frequency Aggregator African Sub 2946 G=0.9776 C=0.0224
Allele Frequency Aggregator Other Sub 692 G=0.893 C=0.107
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.889 C=0.111
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.829 C=0.171
Allele Frequency Aggregator Asian Sub 112 G=0.759 C=0.241
Allele Frequency Aggregator South Asian Sub 98 G=0.87 C=0.13
8.3KJPN JAPANESE Study-wide 16760 G=0.67112 C=0.32888
1000Genomes_30x Global Study-wide 6404 G=0.8776 C=0.1224
1000Genomes_30x African Sub 1786 G=0.9882 C=0.0118
1000Genomes_30x Europe Sub 1266 G=0.8870 C=0.1130
1000Genomes_30x South Asian Sub 1202 G=0.8735 C=0.1265
1000Genomes_30x East Asian Sub 1170 G=0.6974 C=0.3026
1000Genomes_30x American Sub 980 G=0.884 C=0.116
1000Genomes Global Study-wide 5008 G=0.8746 C=0.1254
1000Genomes African Sub 1322 G=0.9864 C=0.0136
1000Genomes East Asian Sub 1008 G=0.6964 C=0.3036
1000Genomes Europe Sub 1006 G=0.8897 C=0.1103
1000Genomes South Asian Sub 978 G=0.887 C=0.113
1000Genomes American Sub 694 G=0.882 C=0.118
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9063 C=0.0937
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8943 C=0.1057
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7068 C=0.2932
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.894 C=0.106
Northern Sweden ACPOP Study-wide 600 G=0.895 C=0.105
Qatari Global Study-wide 216 G=0.782 C=0.218
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.701 C=0.299
SGDP_PRJ Global Study-wide 158 G=0.405 C=0.595
The Danish reference pan genome Danish Study-wide 40 G=0.82 C=0.17
Siberian Global Study-wide 16 G=0.44 C=0.56
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 17 NC_000017.11:g.46103453G>C
GRCh37.p13 chr 17 NC_000017.10:g.44180819G>C
KANSL1 RefSeqGene NG_032784.1:g.126922C>G
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.805558G>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.683247C>G
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.685240C>G
Gene: KANSL1, KAT8 regulatory NSL complex subunit 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KANSL1 transcript variant 3 NM_001193465.2:c.1290-875…

NM_001193465.2:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant 1 NM_001193466.2:c.1290-875…

NM_001193466.2:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant 4 NM_001379198.1:c.1290-875…

NM_001379198.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant 2 NM_015443.4:c.1290-8752C>G N/A Intron Variant
KANSL1 transcript variant X1 XM_006721824.5:c.1290-875…

XM_006721824.5:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X2 XM_011524628.4:c.1290-875…

XM_011524628.4:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X8 XM_017024488.3:c.1290-875…

XM_017024488.3:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X1 XM_047435794.1:c.1290-875…

XM_047435794.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X4 XM_047435795.1:c.1290-875…

XM_047435795.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X5 XM_047435796.1:c.1290-875…

XM_047435796.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X6 XM_047435797.1:c.1290-875…

XM_047435797.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X7 XM_047435798.1:c.1290-875…

XM_047435798.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X9 XM_047435799.1:c.1290-875…

XM_047435799.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X3 XM_047435800.1:c.1290-875…

XM_047435800.1:c.1290-8752C>G

N/A Intron Variant
KANSL1 transcript variant X4 XM_047435801.1:c.60-8752C…

XM_047435801.1:c.60-8752C>G

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 G= C
GRCh38.p14 chr 17 NC_000017.11:g.46103453= NC_000017.11:g.46103453G>C
GRCh37.p13 chr 17 NC_000017.10:g.44180819= NC_000017.10:g.44180819G>C
KANSL1 RefSeqGene NG_032784.1:g.126922= NG_032784.1:g.126922C>G
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5 NT_187663.1:g.805558= NT_187663.1:g.805558G>C
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.2:g.683247= NT_167251.2:g.683247C>G
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5 NT_167251.1:g.685240= NT_167251.1:g.685240C>G
KANSL1 transcript variant 3 NM_001193465.1:c.1290-8752= NM_001193465.1:c.1290-8752C>G
KANSL1 transcript variant 3 NM_001193465.2:c.1290-8752= NM_001193465.2:c.1290-8752C>G
KANSL1 transcript variant 1 NM_001193466.1:c.1290-8752= NM_001193466.1:c.1290-8752C>G
KANSL1 transcript variant 1 NM_001193466.2:c.1290-8752= NM_001193466.2:c.1290-8752C>G
KANSL1 transcript variant 4 NM_001379198.1:c.1290-8752= NM_001379198.1:c.1290-8752C>G
KANSL1 transcript variant 2 NM_015443.3:c.1290-8752= NM_015443.3:c.1290-8752C>G
KANSL1 transcript variant 2 NM_015443.4:c.1290-8752= NM_015443.4:c.1290-8752C>G
KANSL1 transcript variant X1 XM_005257232.1:c.1290-8752= XM_005257232.1:c.1290-8752C>G
KANSL1 transcript variant X2 XM_005257233.1:c.1290-8752= XM_005257233.1:c.1290-8752C>G
KANSL1 transcript variant X3 XM_005257234.1:c.1290-8752= XM_005257234.1:c.1290-8752C>G
KANSL1 transcript variant X4 XM_005257235.1:c.1290-8752= XM_005257235.1:c.1290-8752C>G
KANSL1 transcript variant X2 XM_005275644.1:c.1290-8454= XM_005275644.1:c.1290-8454C>G
KANSL1 transcript variant X1 XM_005275645.1:c.1290-8454= XM_005275645.1:c.1290-8454C>G
KANSL1 transcript variant X1 XM_006721824.5:c.1290-8752= XM_006721824.5:c.1290-8752C>G
KANSL1 transcript variant X2 XM_011524628.4:c.1290-8752= XM_011524628.4:c.1290-8752C>G
KANSL1 transcript variant X8 XM_017024488.3:c.1290-8752= XM_017024488.3:c.1290-8752C>G
KANSL1 transcript variant X1 XM_047435794.1:c.1290-8752= XM_047435794.1:c.1290-8752C>G
KANSL1 transcript variant X4 XM_047435795.1:c.1290-8752= XM_047435795.1:c.1290-8752C>G
KANSL1 transcript variant X5 XM_047435796.1:c.1290-8752= XM_047435796.1:c.1290-8752C>G
KANSL1 transcript variant X6 XM_047435797.1:c.1290-8752= XM_047435797.1:c.1290-8752C>G
KANSL1 transcript variant X7 XM_047435798.1:c.1290-8752= XM_047435798.1:c.1290-8752C>G
KANSL1 transcript variant X9 XM_047435799.1:c.1290-8752= XM_047435799.1:c.1290-8752C>G
KANSL1 transcript variant X3 XM_047435800.1:c.1290-8752= XM_047435800.1:c.1290-8752C>G
KANSL1 transcript variant X4 XM_047435801.1:c.60-8752= XM_047435801.1:c.60-8752C>G
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#.

50 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81690769 Dec 14, 2007 (129)
2 GMI ss158054266 Dec 01, 2009 (131)
3 1000GENOMES ss237251810 Jul 15, 2010 (137)
4 1000GENOMES ss243546963 Jul 15, 2010 (137)
5 BL ss255653013 May 09, 2011 (137)
6 GMI ss282773592 May 04, 2012 (137)
7 GMI ss287183961 Apr 25, 2013 (138)
8 TISHKOFF ss565286569 Apr 25, 2013 (138)
9 SSMP ss661091133 Apr 25, 2013 (138)
10 EVA-GONL ss993132238 Aug 21, 2014 (142)
11 JMKIDD_LAB ss1081074460 Aug 21, 2014 (142)
12 1000GENOMES ss1358752140 Aug 21, 2014 (142)
13 DDI ss1428039045 Apr 01, 2015 (144)
14 EVA_GENOME_DK ss1578166859 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1635699423 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1678693456 Apr 01, 2015 (144)
17 EVA_DECODE ss1697175413 Apr 01, 2015 (144)
18 WEILL_CORNELL_DGM ss1936593368 Feb 12, 2016 (147)
19 ILLUMINA ss1959750183 Feb 12, 2016 (147)
20 JJLAB ss2029073216 Sep 14, 2016 (149)
21 USC_VALOUEV ss2157546311 Dec 20, 2016 (150)
22 SYSTEMSBIOZJU ss2629031777 Nov 08, 2017 (151)
23 GRF ss2702106589 Nov 08, 2017 (151)
24 SWEGEN ss3015577150 Nov 08, 2017 (151)
25 ILLUMINA ss3021783870 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3028357862 Nov 08, 2017 (151)
27 CSHL ss3351754903 Nov 08, 2017 (151)
28 ILLUMINA ss3652200751 Oct 12, 2018 (152)
29 EVA_DECODE ss3700516584 Jul 13, 2019 (153)
30 ILLUMINA ss3725624983 Jul 13, 2019 (153)
31 ACPOP ss3742046908 Jul 13, 2019 (153)
32 EVA ss3754696306 Jul 13, 2019 (153)
33 PAGE_CC ss3771930457 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3819964179 Jul 13, 2019 (153)
35 EVA ss3834880445 Apr 27, 2020 (154)
36 EVA ss3841050886 Apr 27, 2020 (154)
37 EVA ss3846548002 Apr 27, 2020 (154)
38 SGDP_PRJ ss3885800818 Apr 27, 2020 (154)
39 KRGDB ss3935500655 Apr 27, 2020 (154)
40 TOPMED ss5036841231 Apr 27, 2021 (155)
41 TOMMO_GENOMICS ss5222537915 Apr 27, 2021 (155)
42 1000G_HIGH_COVERAGE ss5303221956 Oct 16, 2022 (156)
43 HUGCELL_USP ss5496265675 Oct 16, 2022 (156)
44 1000G_HIGH_COVERAGE ss5606983220 Oct 16, 2022 (156)
45 SANFORD_IMAGENETICS ss5660152042 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5778788511 Oct 16, 2022 (156)
47 YY_MCH ss5816561984 Oct 16, 2022 (156)
48 EVA ss5834018358 Oct 16, 2022 (156)
49 EVA ss5851816491 Oct 16, 2022 (156)
50 EVA ss5951543447 Oct 16, 2022 (156)
51 1000Genomes NC_000017.10 - 44180819 Oct 12, 2018 (152)
52 1000Genomes_30x NC_000017.11 - 46103453 Oct 16, 2022 (156)
53 The Avon Longitudinal Study of Parents and Children NC_000017.10 - 44180819 Oct 12, 2018 (152)
54 The Danish reference pan genome NC_000017.10 - 44180819 Apr 27, 2020 (154)
55 gnomAD - Genomes NC_000017.11 - 46103453 Apr 27, 2021 (155)
56 Genome of the Netherlands Release 5 NC_000017.10 - 44180819 Apr 27, 2020 (154)
57 KOREAN population from KRGDB NC_000017.10 - 44180819 Apr 27, 2020 (154)
58 Northern Sweden NC_000017.10 - 44180819 Jul 13, 2019 (153)
59 The PAGE Study NC_000017.11 - 46103453 Jul 13, 2019 (153)
60 Qatari NC_000017.10 - 44180819 Apr 27, 2020 (154)
61 SGDP_PRJ NC_000017.10 - 44180819 Apr 27, 2020 (154)
62 Siberian NC_000017.10 - 44180819 Apr 27, 2020 (154)
63 8.3KJPN NC_000017.10 - 44180819 Apr 27, 2021 (155)
64 14KJPN NC_000017.11 - 46103453 Oct 16, 2022 (156)
65 TopMed NC_000017.11 - 46103453 Apr 27, 2021 (155)
66 UK 10K study - Twins NC_000017.10 - 44180819 Oct 12, 2018 (152)
67 A Vietnamese Genetic Variation Database NC_000017.10 - 44180819 Jul 13, 2019 (153)
68 ALFA NC_000017.11 - 46103453 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)
rs116991237 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81690769, ss255653013, ss282773592, ss287183961, ss1697175413 NC_000017.9:41536630:G:C NC_000017.11:46103452:G:C (self)
71997592, 39900649, 4368835, 17782809, 42678049, 15331773, 18635290, 37817798, 10062665, 80507222, 39900649, 8826973, ss237251810, ss243546963, ss565286569, ss661091133, ss993132238, ss1081074460, ss1358752140, ss1428039045, ss1578166859, ss1635699423, ss1678693456, ss1936593368, ss1959750183, ss2029073216, ss2157546311, ss2629031777, ss2702106589, ss3015577150, ss3021783870, ss3351754903, ss3652200751, ss3742046908, ss3754696306, ss3834880445, ss3841050886, ss3885800818, ss3935500655, ss5222537915, ss5660152042, ss5834018358, ss5951543447 NC_000017.10:44180818:G:C NC_000017.11:46103452:G:C (self)
94509155, 507984467, 1151926, 112625615, 252386893, 13717607393, ss3028357862, ss3700516584, ss3725624983, ss3771930457, ss3819964179, ss3846548002, ss5036841231, ss5303221956, ss5496265675, ss5606983220, ss5778788511, ss5816561984, ss5851816491 NC_000017.11:46103452:G:C NC_000017.11:46103452:G:C (self)
ss158054266 NT_010783.15:9454970:G:C NC_000017.11:46103452:G:C (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 rs57319081

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.post761+d5e8e07