rs121913680

Orientation

plus

Stabilized

plus

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

Make rs121913680(A;A)

Make rs121913680(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54727515

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913680
dbSNP (classic)	rs121913680
ClinGen	rs121913680
ebi	rs121913680
HLI	rs121913680
Exac	rs121913680
Gnomad	rs121913680
Varsome	rs121913680
LitVar	rs121913680
Map	rs121913680
PheGenI	rs121913680
Biobank	rs121913680
1000 genomes	rs121913680
hgdp	rs121913680
ensembl	rs121913680
geneview	rs121913680
scholar	rs121913680
google	rs121913680
pharmgkb	rs121913680
gwascentral	rs121913680
openSNP	rs121913680
23andMe	rs121913680
SNPshot	rs121913680
SNPdbe	rs121913680
MSV3d	rs121913680
GWAS Ctlg	rs121913680

Max Magnitude

0

OMIM	164920
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121913680(A;A)
Alt	rs121913680(A;A)
Reference	Rs121913680(G;G)
Significance	Pathogenic
Disease	Partial albinism
Variation	info
Gene	KIT
CLNDBN	Partial albinism
Reversed	0
HGVS	NC_000004.11:g.55593681G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014861.21,