rs121913682

Orientation

plus

Stabilized

plus

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

Make rs121913682(A;G)

Make rs121913682(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54733167

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913682
dbSNP (classic)	rs121913682
ClinGen	rs121913682
ebi	rs121913682
HLI	rs121913682
Exac	rs121913682
Gnomad	rs121913682
Varsome	rs121913682
LitVar	rs121913682
Map	rs121913682
PheGenI	rs121913682
Biobank	rs121913682
1000 genomes	rs121913682
hgdp	rs121913682
ensembl	rs121913682
geneview	rs121913682
scholar	rs121913682
google	rs121913682
pharmgkb	rs121913682
gwascentral	rs121913682
openSNP	rs121913682
23andMe	rs121913682
SNPshot	rs121913682
SNPdbe	rs121913682
MSV3d	rs121913682
GWAS Ctlg	rs121913682

Max Magnitude

0

OMIM	164920
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121913682(G;G) rs121913682(T;T)
Alt	rs121913682(G;G) rs121913682(T;T)
Reference	Rs121913682(A;A)
Significance	Pathogenic
Disease	Mast cell disease
Variation	info
Gene	KIT
CLNDBN	Mast cell disease, systemic
Reversed	0
HGVS	NC_000004.11:g.55599333A>G; NC_000004.11:g.55599333A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014867.25, RCV000425679.1,