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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.

rs3822214

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr4:54727298 (GRCh38.p13) 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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.091938 (27896/303422, ALFA)
C=0.079417 (21021/264690, TOPMED)
C=0.077266 (10833/140204, GnomAD) (+ 22 more)
C=0.078890 (9575/121372, ExAC)
C=0.06203 (4881/78692, PAGE_STUDY)
C=0.04618 (774/16760, 8.3KJPN)
C=0.09549 (1242/13006, GO-ESP)
C=0.0645 (323/5008, 1000G)
C=0.0665 (298/4480, Estonian)
C=0.1017 (392/3854, ALSPAC)
C=0.1090 (404/3708, TWINSUK)
C=0.0387 (113/2922, KOREAN)
C=0.0608 (115/1892, HapMap)
C=0.0328 (60/1832, Korea1K)
C=0.087 (87/998, GoNL)
C=0.039 (31/792, PRJEB37584)
C=0.049 (30/616, Vietnamese)
C=0.078 (47/600, NorthernSweden)
C=0.109 (58/534, MGP)
C=0.056 (17/304, FINRISK)
C=0.056 (12/216, Qatari)
A=0.45 (35/78, SGDP_PRJ)
C=0.07 (3/40, GENOME_DK)
A=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KIT : Missense Variant
Publications
11 citations
Genomic View
See rs on genome
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.p13 chr 4 NC_000004.12:g.54727298A>C
GRCh38.p13 chr 4 NC_000004.12:g.54727298A>G
GRCh38.p13 chr 4 NC_000004.12:g.54727298A>T
GRCh37.p13 chr 4 NC_000004.11:g.55593464A>C
GRCh37.p13 chr 4 NC_000004.11:g.55593464A>G
GRCh37.p13 chr 4 NC_000004.11:g.55593464A>T
KIT RefSeqGene (LRG_307) NG_007456.1:g.74304A>C
KIT RefSeqGene (LRG_307) NG_007456.1:g.74304A>G
KIT RefSeqGene (LRG_307) NG_007456.1:g.74304A>T
Gene: KIT, KIT proto-oncogene, receptor tyrosine kinase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KIT transcript variant 1 NM_000222.3:c.1621A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Met541Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 1 NM_000222.3:c.1621A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Met541Val M (Met) > V (Val) Missense Variant
KIT transcript variant 1 NM_000222.3:c.1621A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Met541Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 7 NM_001385290.1:c.1624A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Met542Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 7 NM_001385290.1:c.1624A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Met542Val M (Met) > V (Val) Missense Variant
KIT transcript variant 7 NM_001385290.1:c.1624A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Met542Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 4 NM_001385285.1:c.1621A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Met541Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 4 NM_001385285.1:c.1621A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Met541Val M (Met) > V (Val) Missense Variant
KIT transcript variant 4 NM_001385285.1:c.1621A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Met541Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 3 NM_001385284.1:c.1624A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Met542Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 3 NM_001385284.1:c.1624A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Met542Val M (Met) > V (Val) Missense Variant
KIT transcript variant 3 NM_001385284.1:c.1624A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Met542Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 2 NM_001093772.2:c.1609A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Met537Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 2 NM_001093772.2:c.1609A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Met537Val M (Met) > V (Val) Missense Variant
KIT transcript variant 2 NM_001093772.2:c.1609A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Met537Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 6 NM_001385288.1:c.1612A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Met538Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 6 NM_001385288.1:c.1612A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Met538Val M (Met) > V (Val) Missense Variant
KIT transcript variant 6 NM_001385288.1:c.1612A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Met538Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 8 NM_001385292.1:c.1612A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Met538Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 8 NM_001385292.1:c.1612A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Met538Val M (Met) > V (Val) Missense Variant
KIT transcript variant 8 NM_001385292.1:c.1612A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Met538Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 5 NM_001385286.1:c.1609A>C M [ATG] > L [CTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Met537Leu M (Met) > L (Leu) Missense Variant
KIT transcript variant 5 NM_001385286.1:c.1609A>G M [ATG] > V [GTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Met537Val M (Met) > V (Val) Missense Variant
KIT transcript variant 5 NM_001385286.1:c.1609A>T M [ATG] > L [TTG] Coding Sequence Variant
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Met537Leu M (Met) > L (Leu) Missense 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.

Allele: C (allele ID: 50038 )
ClinVar Accession Disease Names Clinical Significance
RCV000034504.1 not provided Benign
RCV000121313.2 not specified Benign
RCV000261290.2 Mastocytosis Likely-Benign
RCV000315844.2 Partial albinism Likely-Benign
RCV000370023.2 Gastrointestinal stromal tumor Likely-Benign
RCV000422326.1 Chronic myelogenous leukemia, BCR-ABL1 positive Not-Provided
RCV001012439.1 Hereditary cancer-predisposing syndrome Benign
RCV001255636.1 Lip and oral cavity carcinoma Pathogenic
Allele: T (allele ID: 721001 )
ClinVar Accession Disease Names Clinical Significance
RCV000887556.2 Gastrointestinal stromal tumor Likely-Benign
RCV001012440.1 Hereditary cancer-predisposing syndrome Likely-Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 303422 A=0.908062 C=0.091938, T=0.000000
European Sub 258178 A=0.904132 C=0.095868, T=0.000000
African Sub 8422 A=0.9538 C=0.0462, T=0.0000
African Others Sub 296 A=0.959 C=0.041, T=0.000
African American Sub 8126 A=0.9536 C=0.0464, T=0.0000
Asian Sub 6850 A=0.9399 C=0.0601, T=0.0000
East Asian Sub 4898 A=0.9608 C=0.0392, T=0.0000
Other Asian Sub 1952 A=0.8873 C=0.1127, T=0.0000
Latin American 1 Sub 1372 A=0.9257 C=0.0743, T=0.0000
Latin American 2 Sub 6584 A=0.9525 C=0.0475, T=0.0000
South Asian Sub 352 A=0.943 C=0.057, T=0.000
Other Sub 21664 A=0.91188 C=0.08812, T=0.00000


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 303422 A=0.908062 C=0.091938, T=0.000000
Allele Frequency Aggregator European Sub 258178 A=0.904132 C=0.095868, T=0.000000
Allele Frequency Aggregator Other Sub 21664 A=0.91188 C=0.08812, T=0.00000
Allele Frequency Aggregator African Sub 8422 A=0.9538 C=0.0462, T=0.0000
Allele Frequency Aggregator Asian Sub 6850 A=0.9399 C=0.0601, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6584 A=0.9525 C=0.0475, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1372 A=0.9257 C=0.0743, T=0.0000
Allele Frequency Aggregator South Asian Sub 352 A=0.943 C=0.057, T=0.000
TopMed Global Study-wide 264690 A=0.920583 C=0.079417
gnomAD - Genomes Global Study-wide 140204 A=0.922734 C=0.077266
gnomAD - Genomes European Sub 75928 A=0.91064 C=0.08936
gnomAD - Genomes African Sub 42014 A=0.94042 C=0.05958
gnomAD - Genomes American Sub 13652 A=0.93254 C=0.06746
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9091 C=0.0909
gnomAD - Genomes East Asian Sub 3132 A=0.9553 C=0.0447
gnomAD - Genomes Other Sub 2154 A=0.9155 C=0.0845
ExAC Global Study-wide 121372 A=0.921110 C=0.078890
ExAC Europe Sub 73338 A=0.90821 C=0.09179
ExAC Asian Sub 25156 A=0.93405 C=0.06595
ExAC American Sub 11564 A=0.95771 C=0.04229
ExAC African Sub 10406 A=0.93994 C=0.06006
ExAC Other Sub 908 A=0.923 C=0.077
The PAGE Study Global Study-wide 78692 A=0.93797 C=0.06203
The PAGE Study AfricanAmerican Sub 32516 A=0.93769 C=0.06231
The PAGE Study Mexican Sub 10810 A=0.94459 C=0.05541
The PAGE Study Asian Sub 8312 A=0.9497 C=0.0503
The PAGE Study PuertoRican Sub 7916 A=0.9250 C=0.0750
The PAGE Study NativeHawaiian Sub 4534 A=0.9502 C=0.0498
The PAGE Study Cuban Sub 4230 A=0.9050 C=0.0950
The PAGE Study Dominican Sub 3826 A=0.9404 C=0.0596
The PAGE Study CentralAmerican Sub 2450 A=0.9531 C=0.0469
The PAGE Study SouthAmerican Sub 1982 A=0.9455 C=0.0545
The PAGE Study NativeAmerican Sub 1260 A=0.9278 C=0.0722
The PAGE Study SouthAsian Sub 856 A=0.914 C=0.086
8.3KJPN JAPANESE Study-wide 16760 A=0.95382 C=0.04618
GO Exome Sequencing Project Global Study-wide 13006 A=0.90451 C=0.09549
GO Exome Sequencing Project European American Sub 8600 A=0.8881 C=0.1119
GO Exome Sequencing Project African American Sub 4406 A=0.9365 C=0.0635
1000Genomes Global Study-wide 5008 A=0.9355 C=0.0645
1000Genomes African Sub 1322 A=0.9493 C=0.0507
1000Genomes East Asian Sub 1008 A=0.9474 C=0.0526
1000Genomes Europe Sub 1006 A=0.9215 C=0.0785
1000Genomes South Asian Sub 978 A=0.913 C=0.087
1000Genomes American Sub 694 A=0.944 C=0.056
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9335 C=0.0665
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8983 C=0.1017
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8910 C=0.1090
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9613 C=0.0387
HapMap Global Study-wide 1892 A=0.9392 C=0.0608
HapMap American Sub 770 A=0.918 C=0.082
HapMap African Sub 692 A=0.958 C=0.042
HapMap Asian Sub 254 A=0.953 C=0.047
HapMap Europe Sub 176 A=0.938 C=0.062
Korean Genome Project KOREAN Study-wide 1832 A=0.9672 C=0.0328
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.913 C=0.087
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.961 C=0.039
CNV burdens in cranial meningiomas CRM Sub 792 A=0.961 C=0.039
A Vietnamese Genetic Variation Database Global Study-wide 616 A=0.951 C=0.049
Northern Sweden ACPOP Study-wide 600 A=0.922 C=0.078
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.891 C=0.109
FINRISK Finnish from FINRISK project Study-wide 304 A=0.944 C=0.056
Qatari Global Study-wide 216 A=0.944 C=0.056
SGDP_PRJ Global Study-wide 78 A=0.45 C=0.55
The Danish reference pan genome Danish Study-wide 40 A=0.93 C=0.07
Siberian Global Study-wide 2 A=0.5 C=0.5
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 A= C G T
GRCh38.p13 chr 4 NC_000004.12:g.54727298= NC_000004.12:g.54727298A>C NC_000004.12:g.54727298A>G NC_000004.12:g.54727298A>T
GRCh37.p13 chr 4 NC_000004.11:g.55593464= NC_000004.11:g.55593464A>C NC_000004.11:g.55593464A>G NC_000004.11:g.55593464A>T
KIT RefSeqGene (LRG_307) NG_007456.1:g.74304= NG_007456.1:g.74304A>C NG_007456.1:g.74304A>G NG_007456.1:g.74304A>T
KIT transcript variant 1 NM_000222.3:c.1621= NM_000222.3:c.1621A>C NM_000222.3:c.1621A>G NM_000222.3:c.1621A>T
KIT transcript variant 1 NM_000222.2:c.1621= NM_000222.2:c.1621A>C NM_000222.2:c.1621A>G NM_000222.2:c.1621A>T
KIT transcript variant 2 NM_001093772.2:c.1609= NM_001093772.2:c.1609A>C NM_001093772.2:c.1609A>G NM_001093772.2:c.1609A>T
KIT transcript variant 2 NM_001093772.1:c.1609= NM_001093772.1:c.1609A>C NM_001093772.1:c.1609A>G NM_001093772.1:c.1609A>T
KIT transcript variant 3 NM_001385284.1:c.1624= NM_001385284.1:c.1624A>C NM_001385284.1:c.1624A>G NM_001385284.1:c.1624A>T
KIT transcript variant 7 NM_001385290.1:c.1624= NM_001385290.1:c.1624A>C NM_001385290.1:c.1624A>G NM_001385290.1:c.1624A>T
KIT transcript variant 4 NM_001385285.1:c.1621= NM_001385285.1:c.1621A>C NM_001385285.1:c.1621A>G NM_001385285.1:c.1621A>T
KIT transcript variant 6 NM_001385288.1:c.1612= NM_001385288.1:c.1612A>C NM_001385288.1:c.1612A>G NM_001385288.1:c.1612A>T
KIT transcript variant 8 NM_001385292.1:c.1612= NM_001385292.1:c.1612A>C NM_001385292.1:c.1612A>G NM_001385292.1:c.1612A>T
KIT transcript variant 5 NM_001385286.1:c.1609= NM_001385286.1:c.1609A>C NM_001385286.1:c.1609A>G NM_001385286.1:c.1609A>T
mast/stem cell growth factor receptor Kit isoform 1 precursor NP_000213.1:p.Met541= NP_000213.1:p.Met541Leu NP_000213.1:p.Met541Val NP_000213.1:p.Met541Leu
mast/stem cell growth factor receptor Kit isoform 2 precursor NP_001087241.1:p.Met537= NP_001087241.1:p.Met537Leu NP_001087241.1:p.Met537Val NP_001087241.1:p.Met537Leu
mast/stem cell growth factor receptor Kit isoform 3 precursor NP_001372213.1:p.Met542= NP_001372213.1:p.Met542Leu NP_001372213.1:p.Met542Val NP_001372213.1:p.Met542Leu
mast/stem cell growth factor receptor Kit isoform 7 precursor NP_001372219.1:p.Met542= NP_001372219.1:p.Met542Leu NP_001372219.1:p.Met542Val NP_001372219.1:p.Met542Leu
mast/stem cell growth factor receptor Kit isoform 4 precursor NP_001372214.1:p.Met541= NP_001372214.1:p.Met541Leu NP_001372214.1:p.Met541Val NP_001372214.1:p.Met541Leu
mast/stem cell growth factor receptor Kit isoform 6 precursor NP_001372217.1:p.Met538= NP_001372217.1:p.Met538Leu NP_001372217.1:p.Met538Val NP_001372217.1:p.Met538Leu
mast/stem cell growth factor receptor Kit isoform 8 precursor NP_001372221.1:p.Met538= NP_001372221.1:p.Met538Leu NP_001372221.1:p.Met538Val NP_001372221.1:p.Met538Leu
mast/stem cell growth factor receptor Kit isoform 5 precursor NP_001372215.1:p.Met537= NP_001372215.1:p.Met537Leu NP_001372215.1:p.Met537Val NP_001372215.1:p.Met537Leu
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#.

126 SubSNP, 26 Frequency, 10 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss5008665 Aug 28, 2002 (107)
2 CSHL-HAPMAP ss17038357 Feb 27, 2004 (120)
3 SSAHASNP ss35418139 May 24, 2005 (125)
4 ABI ss42128164 Mar 13, 2006 (126)
5 CANCER-GENOME ss48534040 Mar 13, 2006 (126)
6 PERLEGEN ss68899078 May 17, 2007 (127)
7 ILLUMINA ss74896176 Dec 06, 2007 (129)
8 CGM_KYOTO ss76878028 Dec 06, 2007 (129)
9 BCMHGSC_JDW ss92584492 Mar 24, 2008 (129)
10 SNP500CANCER ss105437191 Feb 04, 2009 (130)
11 1000GENOMES ss113065285 Jan 25, 2009 (130)
12 ENSEMBL ss139613250 Dec 01, 2009 (131)
13 ILLUMINA ss160647908 Dec 01, 2009 (131)
14 ENSEMBL ss161557882 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss166579149 Jul 04, 2010 (132)
16 ILLUMINA ss173655201 Jul 04, 2010 (132)
17 1000GENOMES ss211407317 Jul 14, 2010 (132)
18 1000GENOMES ss220917346 Jul 14, 2010 (132)
19 1000GENOMES ss232386652 Jul 14, 2010 (132)
20 1000GENOMES ss239681096 Jul 15, 2010 (132)
21 ILLUMINA ss244297791 Jul 04, 2010 (132)
22 PJP ss293069875 May 09, 2011 (134)
23 NHLBI-ESP ss342163508 May 09, 2011 (134)
24 ILLUMINA ss480852524 May 04, 2012 (137)
25 ILLUMINA ss480870361 May 04, 2012 (137)
26 ILLUMINA ss481806308 Sep 08, 2015 (146)
27 ILLUMINA ss485221232 May 04, 2012 (137)
28 1000GENOMES ss490887560 May 04, 2012 (137)
29 EXOME_CHIP ss491355818 May 04, 2012 (137)
30 CLINSEQ_SNP ss491854282 May 04, 2012 (137)
31 ILLUMINA ss537200865 Sep 08, 2015 (146)
32 TISHKOFF ss557506946 Apr 25, 2013 (138)
33 SSMP ss651303300 Apr 25, 2013 (138)
34 ILLUMINA ss778898366 Aug 21, 2014 (142)
35 ILLUMINA ss780828836 Aug 21, 2014 (142)
36 ILLUMINA ss783056563 Aug 21, 2014 (142)
37 ILLUMINA ss783511691 Aug 21, 2014 (142)
38 ILLUMINA ss784014805 Aug 21, 2014 (142)
39 ILLUMINA ss832314469 Apr 01, 2015 (144)
40 ILLUMINA ss834359587 Aug 21, 2014 (142)
41 JMKIDD_LAB ss974452535 Aug 21, 2014 (142)
42 EVA-GONL ss980098180 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067461237 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1071524760 Aug 21, 2014 (142)
45 1000GENOMES ss1309680687 Aug 21, 2014 (142)
46 EVA_GENOME_DK ss1580549141 Apr 01, 2015 (144)
47 EVA_FINRISK ss1584034283 Apr 01, 2015 (144)
48 EVA_DECODE ss1589595825 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1610058086 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1653052119 Apr 01, 2015 (144)
51 EVA_EXAC ss1687495139 Apr 01, 2015 (144)
52 EVA_MGP ss1711059761 Apr 01, 2015 (144)
53 EVA_SVP ss1712672258 Apr 01, 2015 (144)
54 ILLUMINA ss1752525442 Sep 08, 2015 (146)
55 ILLUMINA ss1752525443 Sep 08, 2015 (146)
56 ILLUMINA ss1917780572 Feb 12, 2016 (147)
57 WEILL_CORNELL_DGM ss1923337311 Feb 12, 2016 (147)
58 ILLUMINA ss1946116116 Feb 12, 2016 (147)
59 ILLUMINA ss1958683240 Feb 12, 2016 (147)
60 AMU ss1966655694 Feb 12, 2016 (147)
61 GENOMED ss1966658490 Feb 12, 2016 (147)
62 JJLAB ss2022252245 Sep 14, 2016 (149)
63 USC_VALOUEV ss2150377496 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2262838029 Dec 20, 2016 (150)
65 TOPMED ss2430488066 Dec 20, 2016 (150)
66 ILLUMINA ss2634118297 Nov 08, 2017 (151)
67 GRF ss2705842700 Nov 08, 2017 (151)
68 GNOMAD ss2734512353 Nov 08, 2017 (151)
69 GNOMAD ss2747238877 Nov 08, 2017 (151)
70 GNOMAD ss2809154847 Nov 08, 2017 (151)
71 AFFY ss2985292258 Nov 08, 2017 (151)
72 SWEGEN ss2994678211 Nov 08, 2017 (151)
73 ILLUMINA ss3022373184 Nov 08, 2017 (151)
74 BIOINF_KMB_FNS_UNIBA ss3024897320 Nov 08, 2017 (151)
75 CSHL ss3345707338 Nov 08, 2017 (151)
76 TOPMED ss3428732863 Nov 08, 2017 (151)
77 ILLUMINA ss3628963547 Oct 12, 2018 (152)
78 ILLUMINA ss3628963548 Oct 12, 2018 (152)
79 ILLUMINA ss3632055093 Oct 12, 2018 (152)
80 ILLUMINA ss3634053620 Oct 12, 2018 (152)
81 ILLUMINA ss3634951971 Oct 12, 2018 (152)
82 ILLUMINA ss3634951972 Oct 12, 2018 (152)
83 ILLUMINA ss3635736561 Oct 12, 2018 (152)
84 ILLUMINA ss3636654864 Oct 12, 2018 (152)
85 ILLUMINA ss3637489075 Oct 12, 2018 (152)
86 ILLUMINA ss3638486265 Oct 12, 2018 (152)
87 ILLUMINA ss3640659267 Oct 12, 2018 (152)
88 ILLUMINA ss3640659268 Oct 12, 2018 (152)
89 ILLUMINA ss3641162983 Oct 12, 2018 (152)
90 ILLUMINA ss3641459828 Oct 12, 2018 (152)
91 ILLUMINA ss3643437680 Oct 12, 2018 (152)
92 ILLUMINA ss3644848889 Oct 12, 2018 (152)
93 OMUKHERJEE_ADBS ss3646307578 Oct 12, 2018 (152)
94 ILLUMINA ss3652857822 Oct 12, 2018 (152)
95 ILLUMINA ss3654063204 Oct 12, 2018 (152)
96 EGCUT_WGS ss3662563275 Jul 13, 2019 (153)
97 EVA_DECODE ss3712025671 Jul 13, 2019 (153)
98 ILLUMINA ss3726132918 Jul 13, 2019 (153)
99 ACPOP ss3731135551 Jul 13, 2019 (153)
100 ILLUMINA ss3744524949 Jul 13, 2019 (153)
101 ILLUMINA ss3745252232 Jul 13, 2019 (153)
102 ILLUMINA ss3745252233 Jul 13, 2019 (153)
103 EVA ss3761780637 Jul 13, 2019 (153)
104 PAGE_CC ss3771124199 Jul 13, 2019 (153)
105 ILLUMINA ss3772746888 Jul 13, 2019 (153)
106 ILLUMINA ss3772746889 Jul 13, 2019 (153)
107 PACBIO ss3784710125 Jul 13, 2019 (153)
108 PACBIO ss3790168369 Jul 13, 2019 (153)
109 PACBIO ss3795043480 Jul 13, 2019 (153)
110 KHV_HUMAN_GENOMES ss3804915959 Jul 13, 2019 (153)
111 EVA ss3824016338 Apr 26, 2020 (154)
112 EVA ss3825657258 Apr 26, 2020 (154)
113 EVA ss3828531313 Apr 26, 2020 (154)
114 SGDP_PRJ ss3858917326 Apr 26, 2020 (154)
115 KRGDB ss3905154648 Apr 26, 2020 (154)
116 KOGIC ss3954162694 Apr 26, 2020 (154)
117 FSA-LAB ss3984283425 Apr 26, 2021 (155)
118 EVA ss3984527960 Apr 26, 2021 (155)
119 EVA ss3986280000 Apr 26, 2021 (155)
120 TOPMED ss4613413026 Apr 26, 2021 (155)
121 TOMMO_GENOMICS ss5165656953 Apr 26, 2021 (155)
122 CPQ_GEN_INCA ss5236854807 Apr 26, 2021 (155)
123 CPQ_GEN_INCA ss5236860031 Apr 26, 2021 (155)
124 CPQ_GEN_INCA ss5236860032 Apr 26, 2021 (155)
125 EVA ss5237006370 Apr 26, 2021 (155)
126 EVA ss5237349030 Apr 26, 2021 (155)
127 1000Genomes NC_000004.11 - 55593464 Oct 12, 2018 (152)
128 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 55593464 Oct 12, 2018 (152)
129 Genetic variation in the Estonian population NC_000004.11 - 55593464 Oct 12, 2018 (152)
130 ExAC NC_000004.11 - 55593464 Oct 12, 2018 (152)
131 FINRISK NC_000004.11 - 55593464 Apr 26, 2020 (154)
132 The Danish reference pan genome NC_000004.11 - 55593464 Apr 26, 2020 (154)
133 gnomAD - Genomes NC_000004.12 - 54727298 Apr 26, 2021 (155)
134 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3615454 (NC_000004.11:55593463:A:A 231827/251206, NC_000004.11:55593463:A:C 19379/251206)
Row 3615455 (NC_000004.11:55593463:A:A 251204/251206, NC_000004.11:55593463:A:T 2/251206)

- Jul 13, 2019 (153)
135 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 3615454 (NC_000004.11:55593463:A:A 231827/251206, NC_000004.11:55593463:A:C 19379/251206)
Row 3615455 (NC_000004.11:55593463:A:A 251204/251206, NC_000004.11:55593463:A:T 2/251206)

- Jul 13, 2019 (153)
136 GO Exome Sequencing Project NC_000004.11 - 55593464 Oct 12, 2018 (152)
137 Genome of the Netherlands Release 5 NC_000004.11 - 55593464 Apr 26, 2020 (154)
138 HapMap NC_000004.12 - 54727298 Apr 26, 2020 (154)
139 KOREAN population from KRGDB NC_000004.11 - 55593464 Apr 26, 2020 (154)
140 Korean Genome Project NC_000004.12 - 54727298 Apr 26, 2020 (154)
141 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 55593464 Apr 26, 2020 (154)
142 Northern Sweden NC_000004.11 - 55593464 Jul 13, 2019 (153)
143 The PAGE Study NC_000004.12 - 54727298 Jul 13, 2019 (153)
144 CNV burdens in cranial meningiomas NC_000004.11 - 55593464 Apr 26, 2021 (155)
145 Qatari NC_000004.11 - 55593464 Apr 26, 2020 (154)
146 SGDP_PRJ NC_000004.11 - 55593464 Apr 26, 2020 (154)
147 Siberian NC_000004.11 - 55593464 Apr 26, 2020 (154)
148 8.3KJPN NC_000004.11 - 55593464 Apr 26, 2021 (155)
149 TopMed NC_000004.12 - 54727298 Apr 26, 2021 (155)
150 UK 10K study - Twins NC_000004.11 - 55593464 Oct 12, 2018 (152)
151 A Vietnamese Genetic Variation Database NC_000004.11 - 55593464 Jul 13, 2019 (153)
152 ALFA NC_000004.12 - 54727298 Apr 26, 2021 (155)
153 ClinVar RCV000034504.1 Oct 12, 2018 (152)
154 ClinVar RCV000121313.2 Oct 12, 2018 (152)
155 ClinVar RCV000261290.2 Apr 26, 2021 (155)
156 ClinVar RCV000315844.2 Apr 26, 2021 (155)
157 ClinVar RCV000370023.2 Apr 26, 2021 (155)
158 ClinVar RCV000422326.1 Oct 12, 2018 (152)
159 ClinVar RCV000887556.2 Apr 26, 2021 (155)
160 ClinVar RCV001012439.1 Apr 26, 2020 (154)
161 ClinVar RCV001012440.1 Apr 26, 2020 (154)
162 ClinVar RCV001255636.1 Apr 26, 2021 (155)
Help

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

Associated ID History Updated (Build)
rs117897843 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35418139 NC_000004.9:55434391:A:C NC_000004.12:54727297:A:C (self)
ss92584492, ss113065285, ss160647908, ss166579149, ss211407317, ss244297791, ss293069875, ss480852524, ss491854282, ss1589595825, ss1712672258, ss3643437680 NC_000004.10:55288220:A:C NC_000004.12:54727297:A:C (self)
21073814, 11728588, 8301523, 7459392, 30744, 6714080, 474563, 5170725, 12332042, 175521, 4420416, 77320, 5379241, 10934306, 2893850, 23626260, 11728588, 2575344, ss220917346, ss232386652, ss239681096, ss342163508, ss480870361, ss481806308, ss485221232, ss490887560, ss491355818, ss537200865, ss557506946, ss651303300, ss778898366, ss780828836, ss783056563, ss783511691, ss784014805, ss832314469, ss834359587, ss974452535, ss980098180, ss1067461237, ss1071524760, ss1309680687, ss1580549141, ss1584034283, ss1610058086, ss1653052119, ss1687495139, ss1711059761, ss1752525442, ss1752525443, ss1917780572, ss1923337311, ss1946116116, ss1958683240, ss1966655694, ss1966658490, ss2022252245, ss2150377496, ss2430488066, ss2634118297, ss2705842700, ss2734512353, ss2747238877, ss2809154847, ss2985292258, ss2994678211, ss3022373184, ss3345707338, ss3628963547, ss3628963548, ss3632055093, ss3634053620, ss3634951971, ss3634951972, ss3635736561, ss3636654864, ss3637489075, ss3638486265, ss3640659267, ss3640659268, ss3641162983, ss3641459828, ss3644848889, ss3646307578, ss3652857822, ss3654063204, ss3662563275, ss3731135551, ss3744524949, ss3745252232, ss3745252233, ss3761780637, ss3772746888, ss3772746889, ss3784710125, ss3790168369, ss3795043480, ss3824016338, ss3825657258, ss3828531313, ss3858917326, ss3905154648, ss3984283425, ss3984527960, ss3986280000, ss5165656953, ss5236854807, ss5236860031, ss5236860032, ss5237349030 NC_000004.11:55593463:A:C NC_000004.12:54727297:A:C (self)
RCV000034504.1, RCV000121313.2, RCV000261290.2, RCV000315844.2, RCV000370023.2, RCV000422326.1, RCV001012439.1, RCV001255636.1, 149381070, 2613127, 10540695, 345668, 281765019, 450790582, 268744344, ss2262838029, ss3024897320, ss3428732863, ss3712025671, ss3726132918, ss3771124199, ss3804915959, ss3954162694, ss4613413026, ss5237006370 NC_000004.12:54727297:A:C NC_000004.12:54727297:A:C (self)
ss17038357 NT_022853.14:2933346:A:C NC_000004.12:54727297:A:C (self)
ss42128164, ss48534040, ss68899078, ss74896176, ss76878028, ss105437191, ss139613250, ss161557882, ss173655201 NT_022853.15:2933346:A:C NC_000004.12:54727297:A:C (self)
ss5008665 NT_022853.15:2933346:A:G NC_000004.12:54727297:A:G (self)
ss2734512353 NC_000004.11:55593463:A:T NC_000004.12:54727297:A:T (self)
RCV000887556.2, RCV001012440.1, 268744344 NC_000004.12:54727297:A:T NC_000004.12:54727297:A:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

11 citations for rs3822214
PMID Title Author Year Journal
16307017 The c-kit (CD117) sequence variation M541L, but not N564K, is frequent in the general population, and is not associated with CML in Caucasians. Krüger S et al. 2006 Leukemia
22703879 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ et al. 2012 American journal of human genetics
24728327 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL et al. 2014 PloS one
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
28866361 Targeted next-generation sequencing of glandular odontogenic cyst: a preliminary study. Siqueira EC et al. 2017 Oral surgery, oral medicine, oral pathology and oral radiology
29239811 The Wnt/β-catenin pathway is deregulated in cemento-ossifying fibromas. Pereira TDSF et al. 2018 Oral surgery, oral medicine, oral pathology and oral radiology
29650325 Improving the genetic signature of prostate cancer, the somatic mutations. Martinez-Gonzalez LJ et al. 2018 Urologic oncology
29871630 A candidate gene identification strategy utilizing mouse to human big-data mining: "3R-tenet" in COPD genetic research. Vishweswaraiah S et al. 2018 Respiratory research
32479654 Next-generation sequencing identifies novel single nucleotide polymorphisms in high-risk cutaneous squamous cell carcinoma: A pilot study. Lobl MB et al. 2020 Experimental dermatology
32550823 Application of targeted next generation sequencing for the mutational profiling of patients with acute lymphoblastic leukemia. Janic D et al. 2020 Journal of medical biochemistry
33099473 The KDR (VEGFR-2) Genetic Polymorphism Q472H and c-KIT Polymorphism M541L Are Associated With More Aggressive Behaviour in Astrocytic Gliomas. Zaman N et al. 2020 Cancer genomics & proteomics
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.post596+ae089ad