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rs281865077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865077(C;T)
Make rs281865077(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435267
GeneHPS1
is asnp
is mentioned by
dbSNPrs281865077
ebirs281865077
HLIrs281865077
Exacrs281865077
Varsomers281865077
Maprs281865077
PheGenIrs281865077
hapmaprs281865077
1000 genomesrs281865077
hgdprs281865077
ensemblrs281865077
gopubmedrs281865077
geneviewrs281865077
scholarrs281865077
googlers281865077
pharmgkbrs281865077
gwascentralrs281865077
openSNPrs281865077
23andMers281865077
23andMe allrs281865077
SNP Nexus

SNPshotrs281865077
SNPdbers281865077
MSV3drs281865077
GWAS Ctlgrs281865077
Max Magnitude0
ClinVar
Risk rs281865077(T;T)
Alt rs281865077(T;T)
Reference rs281865077(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 0
HGVS NC_000010.10:g.100195024C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005601.4,