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rs281865073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAT;GAT) 0 common in clinvar
Make rs281865073(-;-)
Make rs281865073(-;TAG)
Make rs281865073(TAG;TAG)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435722
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865073
ebirs281865073
HLIrs281865073
Exacrs281865073
Varsomers281865073
Maprs281865073
PheGenIrs281865073
hapmaprs281865073
1000 genomesrs281865073
hgdprs281865073
ensemblrs281865073
gopubmedrs281865073
geneviewrs281865073
scholarrs281865073
googlers281865073
pharmgkbrs281865073
gwascentralrs281865073
openSNPrs281865073
23andMers281865073
23andMe allrs281865073
SNP Nexus

SNPshotrs281865073
SNPdbers281865073
MSV3drs281865073
GWAS Ctlgrs281865073
Max Magnitude0
ClinVar
Risk rs281865073(;)
Alt rs281865073(;)
Reference rs281865073(GAT;GAT)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100195479_100195481delGAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020185.1,