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rs281865105

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865105(-;-)
Make rs281865105(-;A)
ReferenceGRCh38 38.1/141
Chromosome11
Position18287628
GeneHPS5
is asnp
is mentioned by
dbSNPrs281865105
ebirs281865105
HLIrs281865105
Exacrs281865105
Varsomers281865105
Maprs281865105
PheGenIrs281865105
hapmaprs281865105
1000 genomesrs281865105
hgdprs281865105
ensemblrs281865105
gopubmedrs281865105
geneviewrs281865105
scholarrs281865105
googlers281865105
pharmgkbrs281865105
gwascentralrs281865105
openSNPrs281865105
23andMers281865105
23andMe allrs281865105
SNP Nexus

SNPshotrs281865105
SNPdbers281865105
MSV3drs281865105
GWAS Ctlgrs281865105
Max Magnitude0
ClinVar
Risk rs281865105(;)
Alt rs281865105(;)
Reference rs281865105(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 0
HGVS NC_000011.9:g.18309175delA
CLNSRC ClinVar GeneReviews
CLNACC RCV000021030.1,