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rs281865098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865098(A;G)
Make rs281865098(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position26472342
GeneHPS4
is asnp
is mentioned by
dbSNPrs281865098
ebirs281865098
HLIrs281865098
Exacrs281865098
Varsomers281865098
Maprs281865098
PheGenIrs281865098
hapmaprs281865098
1000 genomesrs281865098
hgdprs281865098
ensemblrs281865098
gopubmedrs281865098
geneviewrs281865098
scholarrs281865098
googlers281865098
pharmgkbrs281865098
gwascentralrs281865098
openSNPrs281865098
23andMers281865098
23andMe allrs281865098
SNP Nexus

SNPshotrs281865098
SNPdbers281865098
MSV3drs281865098
GWAS Ctlgrs281865098
Max Magnitude0
ClinVar
Risk rs281865098(G;G)
Alt rs281865098(G;G)
Reference rs281865098(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 4
Variation info
Gene HPS4
CLNDBN Hermansky-Pudlak syndrome 4
Reversed 1
HGVS NC_000022.10:g.26868308T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020872.1,