rs730882157

Orientation

minus

Stabilized

minus

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

Make rs730882157(A;C)

Make rs730882157(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

88545781

Gene

KITLG

is a	snp
is	mentioned by
dbSNP	rs730882157
dbSNP (classic)	rs730882157
ClinGen	rs730882157
ebi	rs730882157
HLI	rs730882157
Exac	rs730882157
Gnomad	rs730882157
Varsome	rs730882157
LitVar	rs730882157
Map	rs730882157
PheGenI	rs730882157
Biobank	rs730882157
1000 genomes	rs730882157
hgdp	rs730882157
ensembl	rs730882157
geneview	rs730882157
scholar	rs730882157
google	rs730882157
pharmgkb	rs730882157
gwascentral	rs730882157
openSNP	rs730882157
23andMe	rs730882157
SNPshot	rs730882157
SNPdbe	rs730882157
MSV3d	rs730882157
GWAS Ctlg	rs730882157

Max Magnitude

0

ClinVar
Risk	rs730882157(C;C)
Alt	rs730882157(C;C)
Reference	Rs730882157(A;A)
Significance	Pathogenic
Disease	Familial progressive hyperpigmentation with or without hypopigmentation
Variation	info
Gene	KITLG
CLNDBN	Familial progressive hyperpigmentation with or without hypopigmentation
Reversed	1
HGVS	NC_000012.11:g.88939558T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162037.4,