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rs281865078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865078(-;-)
Make rs281865078(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position98434072
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865078
ebirs281865078
HLIrs281865078
Exacrs281865078
Varsomers281865078
Maprs281865078
PheGenIrs281865078
hapmaprs281865078
1000 genomesrs281865078
hgdprs281865078
ensemblrs281865078
gopubmedrs281865078
geneviewrs281865078
scholarrs281865078
googlers281865078
pharmgkbrs281865078
gwascentralrs281865078
openSNPrs281865078
23andMers281865078
23andMe allrs281865078
SNP Nexus

SNPshotrs281865078
SNPdbers281865078
MSV3drs281865078
GWAS Ctlgrs281865078
Max Magnitude0
ClinVar
Risk rs281865078(;)
Alt rs281865078(;)
Reference rs281865078(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.100193829delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020195.1,