rs121913517

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs121913517(C;C)

Make rs121913517(C;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54727444

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913517
dbSNP (classic)	rs121913517
ClinGen	rs121913517
ebi	rs121913517
HLI	rs121913517
Exac	rs121913517
Gnomad	rs121913517
Varsome	rs121913517
LitVar	rs121913517
Map	rs121913517
PheGenI	rs121913517
Biobank	rs121913517
1000 genomes	rs121913517
hgdp	rs121913517
ensembl	rs121913517
geneview	rs121913517
scholar	rs121913517
google	rs121913517
pharmgkb	rs121913517
gwascentral	rs121913517
openSNP	rs121913517
23andMe	rs121913517
SNPshot	rs121913517
SNPdbe	rs121913517
MSV3d	rs121913517
GWAS Ctlg	rs121913517

Max Magnitude

0

OMIM	164920
Desc
Variant	0014
Related	also

OMIM	164920
Desc
Variant	0023
Related	also

ClinVar
Risk	rs121913517(A;A) rs121913517(C;C) rs121913517(G;G)
Alt	rs121913517(A;A) rs121913517(C;C) rs121913517(G;G)
Reference	Rs121913517(T;T)
Significance	Other
Disease	Gastrointestinal stromal tumor Malignant melanoma Gastrointestinal stromal tumor Thymoma
Variation	info
Gene	KIT
CLNDBN	Gastrointestinal stromal tumor Malignant melanoma Gastrointestinal stromal tumor, familial Thymoma
Reversed	0
HGVS	NC_000004.11:g.55593610T>A; NC_000004.11:g.55593610T>C; NC_000004.11:g.55593610T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014870.5, RCV000419360.1, RCV000014879.25, RCV000420045.1, RCV000430728.1, RCV000437270.1, RCV000420731.1, RCV000441453.1,