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rs281865082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865082(-;-)
Make rs281865082(-;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position98427230
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865082
ebirs281865082
HLIrs281865082
Exacrs281865082
Varsomers281865082
Maprs281865082
PheGenIrs281865082
hapmaprs281865082
1000 genomesrs281865082
hgdprs281865082
ensemblrs281865082
gopubmedrs281865082
geneviewrs281865082
scholarrs281865082
googlers281865082
pharmgkbrs281865082
gwascentralrs281865082
openSNPrs281865082
23andMers281865082
23andMe allrs281865082
SNP Nexus

SNPshotrs281865082
SNPdbers281865082
MSV3drs281865082
GWAS Ctlgrs281865082
Max Magnitude0
ClinVar
Risk rs281865082(;)
Alt rs281865082(;)
Reference rs281865082(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100186987delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005598.4,