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rs281865076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865076(A;A)
Make rs281865076(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435279
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865076
ebirs281865076
HLIrs281865076
Exacrs281865076
Varsomers281865076
Maprs281865076
PheGenIrs281865076
hapmaprs281865076
1000 genomesrs281865076
hgdprs281865076
ensemblrs281865076
gopubmedrs281865076
geneviewrs281865076
scholarrs281865076
googlers281865076
pharmgkbrs281865076
gwascentralrs281865076
openSNPrs281865076
23andMers281865076
23andMe allrs281865076
SNP Nexus

SNPshotrs281865076
SNPdbers281865076
MSV3drs281865076
GWAS Ctlgrs281865076
Max Magnitude0
ClinVar
Risk rs281865076(A;A)
Alt rs281865076(A;A)
Reference rs281865076(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.100195036G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020194.1,