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rs281865095

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865095(C;G)
Make rs281865095(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position149163950
GeneHPS3
is asnp
is mentioned by
dbSNPrs281865095
ebirs281865095
HLIrs281865095
Exacrs281865095
Varsomers281865095
Maprs281865095
PheGenIrs281865095
hapmaprs281865095
1000 genomesrs281865095
hgdprs281865095
ensemblrs281865095
gopubmedrs281865095
geneviewrs281865095
scholarrs281865095
googlers281865095
pharmgkbrs281865095
gwascentralrs281865095
openSNPrs281865095
23andMers281865095
23andMe allrs281865095
SNP Nexus

SNPshotrs281865095
SNPdbers281865095
MSV3drs281865095
GWAS Ctlgrs281865095
Max Magnitude0
ClinVar
Risk rs281865095(A,G;A,G)
Alt rs281865095(A,G;A,G)
Reference rs281865095(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.148881737G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004875.3,