Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865089(C;T)
Make rs281865089(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98420153
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865089
ebirs281865089
HLIrs281865089
Exacrs281865089
Varsomers281865089
Maprs281865089
PheGenIrs281865089
hapmaprs281865089
1000 genomesrs281865089
hgdprs281865089
ensemblrs281865089
gopubmedrs281865089
geneviewrs281865089
scholarrs281865089
googlers281865089
pharmgkbrs281865089
gwascentralrs281865089
openSNPrs281865089
23andMers281865089
23andMe allrs281865089
SNP Nexus

SNPshotrs281865089
SNPdbers281865089
MSV3drs281865089
GWAS Ctlgrs281865089
Max Magnitude0
ClinVar
Risk rs281865089(T;T)
Alt rs281865089(T;T)
Reference rs281865089(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.100179910C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020188.1,