rs28933371

Orientation

plus

Stabilized

plus

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

Make rs28933371(G;G)

Make rs28933371(G;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

54727519

Gene

KIT

is a	snp
is	mentioned by
dbSNP	rs28933371
dbSNP (classic)	rs28933371
ClinGen	rs28933371
ebi	rs28933371
HLI	rs28933371
Exac	rs28933371
Gnomad	rs28933371
Varsome	rs28933371
LitVar	rs28933371
Map	rs28933371
PheGenI	rs28933371
Biobank	rs28933371
1000 genomes	rs28933371
hgdp	rs28933371
ensembl	rs28933371
geneview	rs28933371
scholar	rs28933371
google	rs28933371
pharmgkb	rs28933371
gwascentral	rs28933371
openSNP	rs28933371
23andMe	rs28933371
SNPshot	rs28933371
SNPdbe	rs28933371
MSV3d	rs28933371
GWAS Ctlg	rs28933371

Max Magnitude

0

OMIM	164920
Desc	PIEBALDISM
Variant	0022
Related	also

ClinVar
Risk	rs28933371(G;G)
Alt	rs28933371(G;G)
Reference	Rs28933371(T;T)
Significance	Pathogenic
Disease	Partial albinism
Variation	info
Gene	KIT
CLNDBN	Partial albinism
Reversed	0
HGVS	NC_000004.11:g.55593685T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014878.25,