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rs138221037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs138221037(A;C)
Make rs138221037(C;C)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position18343504
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs138221037
dbSNP (classic)rs138221037
ClinGenrs138221037
ebirs138221037
HLIrs138221037
Exacrs138221037
Gnomadrs138221037
Varsomers138221037
LitVarrs138221037
Maprs138221037
PheGenIrs138221037
Biobankrs138221037
1000 genomesrs138221037
hgdprs138221037
ensemblrs138221037
geneviewrs138221037
scholarrs138221037
googlers138221037
pharmgkbrs138221037
gwascentralrs138221037
openSNPrs138221037
23andMers138221037
SNPshotrs138221037
SNPdbers138221037
MSV3drs138221037
GWAS Ctlgrs138221037
Max Magnitude0
ClinVar
Risk rs138221037(C;C)
Alt rs138221037(C;C)
Reference Rs138221037(A;A)
Significance Pathogenic
Disease Enterokinase deficiency
Variation info
Gene TMPRSS15
CLNDBN Enterokinase deficiency
Reversed 0
HGVS NC_000021.8:g.19715821A>C
CLNSRC
CLNACC RCV000184055.1,