rs794726671

Orientation

plus

Stabilized

plus

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

Make rs794726671(G;G)

Make rs794726671(G;T)

Reference

GRCh38.p2 38.2/146

Chromosome

4

Position

54727520

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs794726671
dbSNP (classic)	rs794726671
ClinGen	rs794726671
ebi	rs794726671
HLI	rs794726671
Exac	rs794726671
Gnomad	rs794726671
Varsome	rs794726671
LitVar	rs794726671
Map	rs794726671
PheGenI	rs794726671
Biobank	rs794726671
1000 genomes	rs794726671
hgdp	rs794726671
ensembl	rs794726671
geneview	rs794726671
scholar	rs794726671
google	rs794726671
pharmgkb	rs794726671
gwascentral	rs794726671
openSNP	rs794726671
23andMe	rs794726671
SNPshot	rs794726671
SNPdbe	rs794726671
MSV3d	rs794726671
GWAS Ctlg	rs794726671

Max Magnitude

0

ClinVar
Risk	rs794726671(G;G)
Alt	rs794726671(G;G)
Reference	Rs794726671(T;T)
Significance	Pathogenic
Disease	Partial albinism
Variation	info
Gene	KIT
CLNDBN	Partial albinism
Reversed	0
HGVS	NC_000004.11:g.55593686T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014857.22,