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rs121908059

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908059(C;T)
Make rs121908059(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position18281139
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs121908059
ebirs121908059
HLIrs121908059
Exacrs121908059
Varsomers121908059
Maprs121908059
PheGenIrs121908059
hapmaprs121908059
1000 genomesrs121908059
hgdprs121908059
ensemblrs121908059
gopubmedrs121908059
geneviewrs121908059
scholarrs121908059
googlers121908059
pharmgkbrs121908059
gwascentralrs121908059
openSNPrs121908059
23andMers121908059
23andMe allrs121908059
SNP Nexus

SNPshotrs121908059
SNPdbers121908059
MSV3drs121908059
GWAS Ctlgrs121908059
Max Magnitude0
OMIM606635
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908059(T;T)
Alt rs121908059(T;T)
Reference rs121908059(C;C)
Significance Pathogenic
Disease Enterokinase deficiency
Variation info
Gene TMPRSS15
CLNDBN Enterokinase deficiency
Reversed 1
HGVS NC_000021.8:g.19653456G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004382.3,