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rs281865104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865104(A;A)
Make rs281865104(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position18287659
GeneHPS5
is asnp
is mentioned by
dbSNPrs281865104
ebirs281865104
HLIrs281865104
Exacrs281865104
Varsomers281865104
Maprs281865104
PheGenIrs281865104
hapmaprs281865104
1000 genomesrs281865104
hgdprs281865104
ensemblrs281865104
gopubmedrs281865104
geneviewrs281865104
scholarrs281865104
googlers281865104
pharmgkbrs281865104
gwascentralrs281865104
openSNPrs281865104
23andMers281865104
23andMe allrs281865104
SNP Nexus

SNPshotrs281865104
SNPdbers281865104
MSV3drs281865104
GWAS Ctlgrs281865104
Max Magnitude0
ClinVar
Risk rs281865104(A;A)
Alt rs281865104(A;A)
Reference rs281865104(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 0
HGVS NC_000011.9:g.18309206G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000021029.1,