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rs281865084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865084(-;-)
Make rs281865084(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98425687
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865084
ebirs281865084
HLIrs281865084
Exacrs281865084
Varsomers281865084
Maprs281865084
PheGenIrs281865084
hapmaprs281865084
1000 genomesrs281865084
hgdprs281865084
ensemblrs281865084
gopubmedrs281865084
geneviewrs281865084
scholarrs281865084
googlers281865084
pharmgkbrs281865084
gwascentralrs281865084
openSNPrs281865084
23andMers281865084
23andMe allrs281865084
SNP Nexus

SNPshotrs281865084
SNPdbers281865084
MSV3drs281865084
GWAS Ctlgrs281865084
Max Magnitude0
ClinVar
Risk rs281865084(;)
Alt rs281865084(;)
Reference rs281865084(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.100185444delG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020181.1,