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rs281865080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865080(A;G)
Make rs281865080(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98430623
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865080
ebirs281865080
HLIrs281865080
Exacrs281865080
Varsomers281865080
Maprs281865080
PheGenIrs281865080
hapmaprs281865080
1000 genomesrs281865080
hgdprs281865080
ensemblrs281865080
gopubmedrs281865080
geneviewrs281865080
scholarrs281865080
googlers281865080
pharmgkbrs281865080
gwascentralrs281865080
openSNPrs281865080
23andMers281865080
23andMe allrs281865080
SNP Nexus

SNPshotrs281865080
SNPdbers281865080
MSV3drs281865080
GWAS Ctlgrs281865080
Max Magnitude0
ClinVar
Risk rs281865080(G;G)
Alt rs281865080(G;G)
Reference rs281865080(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.100190380A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020197.1,