Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs281865101(-;G)
Make rs281865101(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position18305438
GeneHPS5
is asnp
is mentioned by
dbSNPrs281865101
dbSNP (classic)rs281865101
ClinGenrs281865101
ebirs281865101
HLIrs281865101
Exacrs281865101
Gnomadrs281865101
Varsomers281865101
LitVarrs281865101
Maprs281865101
PheGenIrs281865101
Biobankrs281865101
1000 genomesrs281865101
hgdprs281865101
ensemblrs281865101
geneviewrs281865101
scholarrs281865101
googlers281865101
pharmgkbrs281865101
gwascentralrs281865101
openSNPrs281865101
23andMers281865101
SNPshotrs281865101
SNPdbers281865101
MSV3drs281865101
GWAS Ctlgrs281865101
Max Magnitude0
ClinVar
Risk rs281865101(G;G)
Alt rs281865101(G;G)
Reference Rs281865101(-;-)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 5
Variation info
Gene HPS5
CLNDBN Hermansky-Pudlak syndrome 5
Reversed 0
HGVS NC_000011.9:g.18326986dupG
CLNSRC ClinVar GeneReviews
CLNACC RCV000021033.1,