rs121913512

Orientation

plus

Stabilized

plus

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

Make rs121913512(A;G)

Make rs121913512(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54728055

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913512
dbSNP (classic)	rs121913512
ClinGen	rs121913512
ebi	rs121913512
HLI	rs121913512
Exac	rs121913512
Gnomad	rs121913512
Varsome	rs121913512
LitVar	rs121913512
Map	rs121913512
PheGenI	rs121913512
Biobank	rs121913512
1000 genomes	rs121913512
hgdp	rs121913512
ensembl	rs121913512
geneview	rs121913512
scholar	rs121913512
google	rs121913512
pharmgkb	rs121913512
gwascentral	rs121913512
openSNP	rs121913512
23andMe	rs121913512
SNPshot	rs121913512
SNPdbe	rs121913512
MSV3d	rs121913512
GWAS Ctlg	rs121913512

Max Magnitude

0

OMIM	164920
Desc
Variant	0024
Related	also

ClinVar
Risk	rs121913512(G;G)
Alt	rs121913512(G;G)
Reference	Rs121913512(A;A)
Significance	Pathogenic
Disease	Gastrointestinal stromal tumor Gastrointestinal stromal tumor Malignant melanoma Malignant melanoma of skin Adenocarcinoma of stomach Hematologic neoplasm
Variation	info
Gene	KIT
CLNDBN	Gastrointestinal stromal tumor, familial Gastrointestinal stromal tumor Malignant melanoma Malignant melanoma of skin Adenocarcinoma of stomach Hematologic neoplasm
Reversed	0
HGVS	NC_000004.11:g.55594221A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014880.25, RCV000418637.1, RCV000419318.1, RCV000428892.1, RCV000429594.1, RCV000436303.1,