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rs121908060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908060(C;T)
Make rs121908060(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position18359856
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs121908060
ebirs121908060
HLIrs121908060
Exacrs121908060
Varsomers121908060
Maprs121908060
PheGenIrs121908060
hapmaprs121908060
1000 genomesrs121908060
hgdprs121908060
ensemblrs121908060
gopubmedrs121908060
geneviewrs121908060
scholarrs121908060
googlers121908060
pharmgkbrs121908060
gwascentralrs121908060
openSNPrs121908060
23andMers121908060
23andMe allrs121908060
SNP Nexus

SNPshotrs121908060
SNPdbers121908060
MSV3drs121908060
GWAS Ctlgrs121908060
Max Magnitude0
OMIM606635
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908060(T;T)
Alt rs121908060(T;T)
Reference rs121908060(C;C)
Significance Pathogenic
Disease Enterokinase deficiency
Variation info
Gene TMPRSS15
CLNDBN Enterokinase deficiency
Reversed 1
HGVS NC_000021.8:g.19732173G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004383.3,