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rs281865092

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865092(-;-)
Make rs281865092(-;G)
Make rs281865092(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98427227
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865092
ebirs281865092
HLIrs281865092
Exacrs281865092
Varsomers281865092
Maprs281865092
PheGenIrs281865092
hapmaprs281865092
1000 genomesrs281865092
hgdprs281865092
ensemblrs281865092
gopubmedrs281865092
geneviewrs281865092
scholarrs281865092
googlers281865092
pharmgkbrs281865092
gwascentralrs281865092
openSNPrs281865092
23andMers281865092
23andMe allrs281865092
SNP Nexus

SNPshotrs281865092
SNPdbers281865092
MSV3drs281865092
GWAS Ctlgrs281865092
Max Magnitude0
ClinVar
Risk rs281865092(G;G)
Alt rs281865092(G;G)
Reference rs281865092(;)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100186984_100186985insG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020203.1,