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rs121908385

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908385(G;T)
Make rs121908385(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position98417671
GeneHPS1, PYROXD2
is asnp
is mentioned by
dbSNPrs121908385
ebirs121908385
HLIrs121908385
Exacrs121908385
Varsomers121908385
Maprs121908385
PheGenIrs121908385
hapmaprs121908385
1000 genomesrs121908385
hgdprs121908385
ensemblrs121908385
gopubmedrs121908385
geneviewrs121908385
scholarrs121908385
googlers121908385
pharmgkbrs121908385
gwascentralrs121908385
openSNPrs121908385
23andMers121908385
23andMe allrs121908385
SNP Nexus

SNPshotrs121908385
SNPdbers121908385
MSV3drs121908385
GWAS Ctlgrs121908385
Max Magnitude0
OMIM604982
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908385(A,T;A,T)
Alt rs121908385(A,T;A,T)
Reference rs121908385(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.100177428C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005597.4,