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rs121918653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918653(A;G)
Make rs121918653(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position88545774
GeneKITLG
is asnp
is mentioned by
dbSNPrs121918653
ebirs121918653
HLIrs121918653
Exacrs121918653
Varsomers121918653
Maprs121918653
PheGenIrs121918653
hapmaprs121918653
1000 genomesrs121918653
hgdprs121918653
ensemblrs121918653
gopubmedrs121918653
geneviewrs121918653
scholarrs121918653
googlers121918653
pharmgkbrs121918653
gwascentralrs121918653
openSNPrs121918653
23andMers121918653
23andMe allrs121918653
SNP Nexus

SNPshotrs121918653
SNPdbers121918653
MSV3drs121918653
GWAS Ctlgrs121918653
Max Magnitude0
OMIM184745
Desc
Variant0003
Relatedalso
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
CLNACC RCV000013661.24,