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rs281865081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865081(-;-)
Make rs281865081(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position98427240
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865081
ebirs281865081
HLIrs281865081
Exacrs281865081
Varsomers281865081
Maprs281865081
PheGenIrs281865081
hapmaprs281865081
1000 genomesrs281865081
hgdprs281865081
ensemblrs281865081
gopubmedrs281865081
geneviewrs281865081
scholarrs281865081
googlers281865081
pharmgkbrs281865081
gwascentralrs281865081
openSNPrs281865081
23andMers281865081
23andMe allrs281865081
SNP Nexus

SNPshotrs281865081
SNPdbers281865081
MSV3drs281865081
GWAS Ctlgrs281865081
Max Magnitude0
ClinVar
Risk rs281865081(;)
Alt rs281865081(;)
Reference rs281865081(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100186997delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020200.1,