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rs281865090

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865090(A;G)
Make rs281865090(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98417664
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865090
ebirs281865090
HLIrs281865090
Exacrs281865090
Varsomers281865090
Maprs281865090
PheGenIrs281865090
hapmaprs281865090
1000 genomesrs281865090
hgdprs281865090
ensemblrs281865090
gopubmedrs281865090
geneviewrs281865090
scholarrs281865090
googlers281865090
pharmgkbrs281865090
gwascentralrs281865090
openSNPrs281865090
23andMers281865090
23andMe allrs281865090
SNP Nexus

SNPshotrs281865090
SNPdbers281865090
MSV3drs281865090
GWAS Ctlgrs281865090
Max Magnitude0
ClinVar
Risk rs281865090(G;G)
Alt rs281865090(G;G)
Reference rs281865090(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100177421A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020191.1,