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rs281865085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865085(-;-)
Make rs281865085(-;T)
Make rs281865085(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98425552
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865085
ebirs281865085
HLIrs281865085
Exacrs281865085
Varsomers281865085
Maprs281865085
PheGenIrs281865085
hapmaprs281865085
1000 genomesrs281865085
hgdprs281865085
ensemblrs281865085
gopubmedrs281865085
geneviewrs281865085
scholarrs281865085
googlers281865085
pharmgkbrs281865085
gwascentralrs281865085
openSNPrs281865085
23andMers281865085
23andMe allrs281865085
SNP Nexus

SNPshotrs281865085
SNPdbers281865085
MSV3drs281865085
GWAS Ctlgrs281865085
Max Magnitude0
ClinVar
Risk rs281865085(T;T)
Alt rs281865085(T;T)
Reference rs281865085(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100185310dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020182.1,