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rs281865075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865075(-;-)
Make rs281865075(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435315
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865075
ebirs281865075
HLIrs281865075
Exacrs281865075
Varsomers281865075
Maprs281865075
PheGenIrs281865075
hapmaprs281865075
1000 genomesrs281865075
hgdprs281865075
ensemblrs281865075
gopubmedrs281865075
geneviewrs281865075
scholarrs281865075
googlers281865075
pharmgkbrs281865075
gwascentralrs281865075
openSNPrs281865075
23andMers281865075
23andMe allrs281865075
SNP Nexus

SNPshotrs281865075
SNPdbers281865075
MSV3drs281865075
GWAS Ctlgrs281865075
Max Magnitude0
ClinVar
Risk rs281865075(;)
Alt rs281865075(;)
Reference rs281865075(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100195072delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020193.1,