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rs387907217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907217(C;C)
Make rs387907217(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54727907
GeneKIT
is asnp
is mentioned by
dbSNPrs387907217
ebirs387907217
HLIrs387907217
Exacrs387907217
Varsomers387907217
Maprs387907217
PheGenIrs387907217
hapmaprs387907217
1000 genomesrs387907217
hgdprs387907217
ensemblrs387907217
gopubmedrs387907217
geneviewrs387907217
scholarrs387907217
googlers387907217
pharmgkbrs387907217
gwascentralrs387907217
openSNPrs387907217
23andMers387907217
23andMe allrs387907217
SNP Nexus

SNPshotrs387907217
SNPdbers387907217
MSV3drs387907217
GWAS Ctlgrs387907217
Max Magnitude0
ClinVar
Risk rs387907217(C;C)
Alt rs387907217(C;C)
Reference rs387907217(T;T)
Significance Pathogenic
Disease Piebaldism
Variation info
Gene KIT
CLNDBN Piebaldism, progressive
Reversed 0
HGVS NC_000004.11:g.55594073T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000029170.25,