rs121913506

Orientation

plus

Stabilized

plus

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

Make rs121913506(C;C)

Make rs121913506(C;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54733154

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913506
dbSNP (classic)	rs121913506
ClinGen	rs121913506
ebi	rs121913506
HLI	rs121913506
Exac	rs121913506
Gnomad	rs121913506
Varsome	rs121913506
LitVar	rs121913506
Map	rs121913506
PheGenI	rs121913506
Biobank	rs121913506
1000 genomes	rs121913506
hgdp	rs121913506
ensembl	rs121913506
geneview	rs121913506
scholar	rs121913506
google	rs121913506
pharmgkb	rs121913506
gwascentral	rs121913506
openSNP	rs121913506
23andMe	rs121913506
SNPshot	rs121913506
SNPdbe	rs121913506
MSV3d	rs121913506
GWAS Ctlg	rs121913506

Merged from

Rs28933969

Max Magnitude

0

OMIM	164920
Desc
Variant	0018
Related	also

OMIM	164920
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121913506(C;C) rs121913506(T;T)
Alt	rs121913506(C;C) rs121913506(T;T)
Reference	Rs121913506(G;G)
Significance	Pathogenic
Disease	Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor
Variation	info
Gene	KIT
CLNDBN	Malignant tumor of testis Acute myeloid leukemia Hematologic neoplasm Malignant melanoma Gastrointestinal stromal tumor
Reversed	0
HGVS	NC_000004.11:g.55599320G>C; NC_000004.11:g.55599320G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014877.4, RCV000379347.1, RCV000418294.1, RCV000428990.1, RCV000439677.1, RCV000014874.26, RCV000422151.1, RCV000422812.1, RCV000429574.1,