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rs281865083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865083(-;-)
Make rs281865083(-;G)
Make rs281865083(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98427229
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865083
ebirs281865083
HLIrs281865083
Exacrs281865083
Varsomers281865083
Maprs281865083
PheGenIrs281865083
hapmaprs281865083
1000 genomesrs281865083
hgdprs281865083
ensemblrs281865083
gopubmedrs281865083
geneviewrs281865083
scholarrs281865083
googlers281865083
pharmgkbrs281865083
gwascentralrs281865083
openSNPrs281865083
23andMers281865083
23andMe allrs281865083
SNP Nexus

SNPshotrs281865083
SNPdbers281865083
MSV3drs281865083
GWAS Ctlgrs281865083
Max Magnitude0
ClinVar
Risk rs281865083(G;G)
Alt rs281865083(G;G)
Reference rs281865083(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100186987dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005596.4,