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rs121908316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908316(C;T)
Make rs121908316(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position149150624
GeneHPS3
is asnp
is mentioned by
dbSNPrs121908316
ebirs121908316
HLIrs121908316
Exacrs121908316
Varsomers121908316
Maprs121908316
PheGenIrs121908316
hapmaprs121908316
1000 genomesrs121908316
hgdprs121908316
ensemblrs121908316
gopubmedrs121908316
geneviewrs121908316
scholarrs121908316
googlers121908316
pharmgkbrs121908316
gwascentralrs121908316
openSNPrs121908316
23andMers121908316
23andMe allrs121908316
SNP Nexus

SNPshotrs121908316
SNPdbers121908316
MSV3drs121908316
GWAS Ctlgrs121908316
Max Magnitude0
OMIM606118
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908316(T;T)
Alt rs121908316(T;T)
Reference rs121908316(C;C)
Significance Pathogenic
Disease Hermansky-Pudlak syndrome 3
Variation info
Gene HPS3
CLNDBN Hermansky-Pudlak syndrome 3
Reversed 0
HGVS NC_000003.11:g.148868411C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004876.1,