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rs730882157

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730882157(A;C)
Make rs730882157(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position88545781
GeneKITLG
is asnp
is mentioned by
dbSNPrs730882157
ebirs730882157
HLIrs730882157
Exacrs730882157
Varsomers730882157
Maprs730882157
PheGenIrs730882157
hapmaprs730882157
1000 genomesrs730882157
hgdprs730882157
ensemblrs730882157
gopubmedrs730882157
geneviewrs730882157
scholarrs730882157
googlers730882157
pharmgkbrs730882157
gwascentralrs730882157
openSNPrs730882157
23andMers730882157
23andMe allrs730882157
SNP Nexus

SNPshotrs730882157
SNPdbers730882157
MSV3drs730882157
GWAS Ctlgrs730882157
Max Magnitude0
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 RCV000162037.3,