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rs281865088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865088(G;G)
Make rs281865088(G;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98420160
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865088
ebirs281865088
HLIrs281865088
Exacrs281865088
Varsomers281865088
Maprs281865088
PheGenIrs281865088
hapmaprs281865088
1000 genomesrs281865088
hgdprs281865088
ensemblrs281865088
gopubmedrs281865088
geneviewrs281865088
scholarrs281865088
googlers281865088
pharmgkbrs281865088
gwascentralrs281865088
openSNPrs281865088
23andMers281865088
23andMe allrs281865088
SNP Nexus

SNPshotrs281865088
SNPdbers281865088
MSV3drs281865088
GWAS Ctlgrs281865088
Max Magnitude0
ClinVar
Risk rs281865088(G;G)
Alt rs281865088(G;G)
Reference rs281865088(T;T)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100179917T>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020187.1,