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rs281865087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865087(-;-)
Make rs281865087(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98422421
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865087
ebirs281865087
HLIrs281865087
Exacrs281865087
Varsomers281865087
Maprs281865087
PheGenIrs281865087
hapmaprs281865087
1000 genomesrs281865087
hgdprs281865087
ensemblrs281865087
gopubmedrs281865087
geneviewrs281865087
scholarrs281865087
googlers281865087
pharmgkbrs281865087
gwascentralrs281865087
openSNPrs281865087
23andMers281865087
23andMe allrs281865087
SNP Nexus

SNPshotrs281865087
SNPdbers281865087
MSV3drs281865087
GWAS Ctlgrs281865087
Max Magnitude0
ClinVar
Risk rs281865087(;)
Alt rs281865087(;)
Reference rs281865087(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.100182178delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020186.1,