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

rs281865086

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865086(-;-)
Make rs281865086(-;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98424335
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865086
ebirs281865086
HLIrs281865086
Exacrs281865086
Varsomers281865086
Maprs281865086
PheGenIrs281865086
hapmaprs281865086
1000 genomesrs281865086
hgdprs281865086
ensemblrs281865086
gopubmedrs281865086
geneviewrs281865086
scholarrs281865086
googlers281865086
pharmgkbrs281865086
gwascentralrs281865086
openSNPrs281865086
23andMers281865086
23andMe allrs281865086
SNP Nexus

SNPshotrs281865086
SNPdbers281865086
MSV3drs281865086
GWAS Ctlgrs281865086
Max Magnitude0
ClinVar
Risk rs281865086(;)
Alt rs281865086(;)
Reference rs281865086(T;T)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100184092delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020183.1,