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rs281865093

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865093(A;C)
Make rs281865093(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position149157533
GeneHPS3
is asnp
is mentioned by
dbSNPrs281865093
dbSNP (classic)rs281865093
ClinGenrs281865093
ebirs281865093
HLIrs281865093
Exacrs281865093
Gnomadrs281865093
Varsomers281865093
LitVarrs281865093
Maprs281865093
PheGenIrs281865093
Biobankrs281865093
1000 genomesrs281865093
hgdprs281865093
ensemblrs281865093
geneviewrs281865093
scholarrs281865093
googlers281865093
pharmgkbrs281865093
gwascentralrs281865093
openSNPrs281865093
23andMers281865093
SNPshotrs281865093
SNPdbers281865093
MSV3drs281865093
GWAS Ctlgrs281865093
Max Magnitude0
ClinVar
Risk rs281865093(C;C)
Alt rs281865093(C;C)
Reference Rs281865093(A;A)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 3
Variation info
Gene HPS3
CLNDBN Hermansky-Pudlak syndrome 3
Reversed 1
HGVS NC_000003.11:g.148875320T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004873.4,