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rs730882156

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730882156(C;C)
Make rs730882156(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88545783
GeneKITLG
is asnp
is mentioned by
dbSNPrs730882156
ebirs730882156
HLIrs730882156
Exacrs730882156
Varsomers730882156
Maprs730882156
PheGenIrs730882156
hapmaprs730882156
1000 genomesrs730882156
hgdprs730882156
ensemblrs730882156
gopubmedrs730882156
geneviewrs730882156
scholarrs730882156
googlers730882156
pharmgkbrs730882156
gwascentralrs730882156
openSNPrs730882156
23andMers730882156
23andMe allrs730882156
SNP Nexus

SNPshotrs730882156
SNPdbers730882156
MSV3drs730882156
GWAS Ctlgrs730882156
Max Magnitude0
ClinVar
Risk rs730882156(C;C)
Alt rs730882156(C;C)
Reference rs730882156(T;T)
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.88939560A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000162036.3,