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rs28933371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28933371(G;G)
Make rs28933371(G;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position54727519
GeneKIT
is asnp
is mentioned by
dbSNPrs28933371
ebirs28933371
HLIrs28933371
Exacrs28933371
Varsomers28933371
Maprs28933371
PheGenIrs28933371
hapmaprs28933371
1000 genomesrs28933371
hgdprs28933371
ensemblrs28933371
gopubmedrs28933371
geneviewrs28933371
scholarrs28933371
googlers28933371
pharmgkbrs28933371
gwascentralrs28933371
openSNPrs28933371
23andMers28933371
23andMe allrs28933371
SNP Nexus

SNPshotrs28933371
SNPdbers28933371
MSV3drs28933371
GWAS Ctlgrs28933371
Max Magnitude0
OMIM164920
DescPIEBALDISM
Variant0022
Relatedalso
Neighborrs28933968
Distance103


ClinVar
Risk rs28933371(G;G)
Alt rs28933371(G;G)
Reference rs28933371(T;T)
Significance Pathogenic
Disease Partial albinism
Variation info
Gene KIT
CLNDBN Partial albinism
Reversed 0
HGVS NC_000004.11:g.55593685T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014878.25,