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rs121908386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908386(G;T)
Make rs121908386(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98435273
GeneHPS1
is asnp
is mentioned by
dbSNPrs121908386
ebirs121908386
HLIrs121908386
Exacrs121908386
Varsomers121908386
Maprs121908386
PheGenIrs121908386
hapmaprs121908386
1000 genomesrs121908386
hgdprs121908386
ensemblrs121908386
gopubmedrs121908386
geneviewrs121908386
scholarrs121908386
googlers121908386
pharmgkbrs121908386
gwascentralrs121908386
openSNPrs121908386
23andMers121908386
23andMe allrs121908386
SNP Nexus

SNPshotrs121908386
SNPdbers121908386
MSV3drs121908386
GWAS Ctlgrs121908386
Max Magnitude0
OMIM604982
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908386(A,T;A,T)
Alt rs121908386(A,T;A,T)
Reference rs121908386(G;G)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 1
Variation info
Gene HPS1
CLNDBN Hermansky-Pudlak syndrome 1
Reversed 1
HGVS NC_000010.10:g.100195030C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005599.4,