rs121918653

Orientation

minus

Stabilized

minus

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

Make rs121918653(A;G)

Make rs121918653(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

88545774

Gene

KITLG

is a	snp
is	mentioned by
dbSNP	rs121918653
dbSNP (classic)	rs121918653
ClinGen	rs121918653
ebi	rs121918653
HLI	rs121918653
Exac	rs121918653
Gnomad	rs121918653
Varsome	rs121918653
LitVar	rs121918653
Map	rs121918653
PheGenI	rs121918653
Biobank	rs121918653
1000 genomes	rs121918653
hgdp	rs121918653
ensembl	rs121918653
geneview	rs121918653
scholar	rs121918653
google	rs121918653
pharmgkb	rs121918653
gwascentral	rs121918653
openSNP	rs121918653
23andMe	rs121918653
SNPshot	rs121918653
SNPdbe	rs121918653
MSV3d	rs121918653
GWAS Ctlg	rs121918653

Max Magnitude

0

OMIM	184745
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918653(G;G)
Alt	rs121918653(G;G)
Reference	Rs121918653(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.88939551T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013661.24,