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rs281865074

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865074(-;-)
Make rs281865074(-;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435382
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865074
dbSNP (classic)rs281865074
ClinGenrs281865074
ebirs281865074
HLIrs281865074
Exacrs281865074
Gnomadrs281865074
Varsomers281865074
LitVarrs281865074
Maprs281865074
PheGenIrs281865074
Biobankrs281865074
1000 genomesrs281865074
hgdprs281865074
ensemblrs281865074
geneviewrs281865074
scholarrs281865074
googlers281865074
pharmgkbrs281865074
gwascentralrs281865074
openSNPrs281865074
23andMers281865074
SNPshotrs281865074
SNPdbers281865074
MSV3drs281865074
GWAS Ctlgrs281865074
Max Magnitude0
ClinVar
Risk rs281865074(-;-)
Alt rs281865074(-;-)
Reference Rs281865074(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100195139delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020192.1,