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rs281865091

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865091(-;-)
Make rs281865091(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position98429578
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865091
ebirs281865091
HLIrs281865091
Exacrs281865091
Varsomers281865091
Maprs281865091
PheGenIrs281865091
hapmaprs281865091
1000 genomesrs281865091
hgdprs281865091
ensemblrs281865091
gopubmedrs281865091
geneviewrs281865091
scholarrs281865091
googlers281865091
pharmgkbrs281865091
gwascentralrs281865091
openSNPrs281865091
23andMers281865091
23andMe allrs281865091
SNP Nexus

SNPshotrs281865091
SNPdbers281865091
MSV3drs281865091
GWAS Ctlgrs281865091
Max Magnitude0
ClinVar
Risk rs281865091(;)
Alt rs281865091(;)
Reference rs281865091(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.100189335delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020199.1,