rs121913687

Orientation

plus

Stabilized

plus

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

Make rs121913687(A;C)

Make rs121913687(C;C)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54736552

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs121913687
dbSNP (classic)	rs121913687
ClinGen	rs121913687
ebi	rs121913687
HLI	rs121913687
Exac	rs121913687
Gnomad	rs121913687
Varsome	rs121913687
LitVar	rs121913687
Map	rs121913687
PheGenI	rs121913687
Biobank	rs121913687
1000 genomes	rs121913687
hgdp	rs121913687
ensembl	rs121913687
geneview	rs121913687
scholar	rs121913687
google	rs121913687
pharmgkb	rs121913687
gwascentral	rs121913687
openSNP	rs121913687
23andMe	rs121913687
SNPshot	rs121913687
SNPdbe	rs121913687
MSV3d	rs121913687
GWAS Ctlg	rs121913687

Max Magnitude

0

OMIM	164920
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121913687(C;C)
Alt	rs121913687(C;C)
Reference	Rs121913687(A;A)
Significance	Pathogenic
Disease	Partial albinism
Variation	info
Gene	KIT
CLNDBN	Partial albinism
Reversed	0
HGVS	NC_000004.11:g.55602718A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014875.25,