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rs281865096

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865096(C;T)
Make rs281865096(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149170483
GeneHPS3
is asnp
is mentioned by
dbSNPrs281865096
ebirs281865096
HLIrs281865096
Exacrs281865096
Varsomers281865096
Maprs281865096
PheGenIrs281865096
hapmaprs281865096
1000 genomesrs281865096
hgdprs281865096
ensemblrs281865096
gopubmedrs281865096
geneviewrs281865096
scholarrs281865096
googlers281865096
pharmgkbrs281865096
gwascentralrs281865096
openSNPrs281865096
23andMers281865096
23andMe allrs281865096
SNP Nexus

SNPshotrs281865096
SNPdbers281865096
MSV3drs281865096
GWAS Ctlgrs281865096
Max Magnitude0
ClinVar
Risk rs281865096(T;T)
Alt rs281865096(T;T)
Reference rs281865096(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 3
Variation info
Gene HPS3 CP
CLNDBN Hermansky-Pudlak syndrome 3
Reversed 1
HGVS NC_000003.11:g.148888270G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020066.1,


[PMID 12125811] Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.