rs121913679

Orientation

plus

Stabilized

plus

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

Make rs121913679(A;A)

Make rs121913679(A;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54728121

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913679
dbSNP (classic)	rs121913679
ClinGen	rs121913679
ebi	rs121913679
HLI	rs121913679
Exac	rs121913679
Gnomad	rs121913679
Varsome	rs121913679
LitVar	rs121913679
Map	rs121913679
PheGenI	rs121913679
Biobank	rs121913679
1000 genomes	rs121913679
hgdp	rs121913679
ensembl	rs121913679
geneview	rs121913679
scholar	rs121913679
google	rs121913679
pharmgkb	rs121913679
gwascentral	rs121913679
openSNP	rs121913679
23andMe	rs121913679
SNPshot	rs121913679
SNPdbe	rs121913679
MSV3d	rs121913679
GWAS Ctlg	rs121913679

Max Magnitude

0

OMIM	164920
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121913679(A;A)
Alt	rs121913679(A;A)
Reference	Rs121913679(G;G)
Significance	Pathogenic
Disease	Partial albinism
Variation	info
Gene	KIT
CLNDBN	Partial albinism
Reversed	0
HGVS	NC_000004.11:g.55594287G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014855.21,