rs1057519713

Orientation

plus

Stabilized

plus

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

Make rs1057519713(C;C)

Make rs1057519713(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

54736498

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs1057519713
dbSNP (classic)	rs1057519713
ClinGen	rs1057519713
ebi	rs1057519713
HLI	rs1057519713
Exac	rs1057519713
Gnomad	rs1057519713
Varsome	rs1057519713
LitVar	rs1057519713
Map	rs1057519713
PheGenI	rs1057519713
Biobank	rs1057519713
1000 genomes	rs1057519713
hgdp	rs1057519713
ensembl	rs1057519713
geneview	rs1057519713
scholar	rs1057519713
google	rs1057519713
pharmgkb	rs1057519713
gwascentral	rs1057519713
openSNP	rs1057519713
23andMe	rs1057519713
SNPshot	rs1057519713
SNPdbe	rs1057519713
MSV3d	rs1057519713
GWAS Ctlg	rs1057519713

Max Magnitude

0

ClinVar
Risk	rs1057519713(C;C)
Alt	rs1057519713(C;C)
Reference	Rs1057519713(G;G)
Significance	Pathogenic
Disease	Malignant melanoma Gastrointestinal stromal tumor
Variation	info
Gene	KIT
CLNDBN	Malignant melanoma Gastrointestinal stromal tumor
Reversed	0
HGVS	NC_000004.11:g.55602664G>C
CLNSRC
CLNACC	RCV000421785.1, RCV000428554.1,