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rs2824721

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs2824721(A;G)
Make rs2824721(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position18297801
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs2824721
ebirs2824721
HLIrs2824721
Exacrs2824721
Varsomers2824721
Maprs2824721
PheGenIrs2824721
hapmaprs2824721
1000 genomesrs2824721
hgdprs2824721
ensemblrs2824721
gopubmedrs2824721
geneviewrs2824721
scholarrs2824721
googlers2824721
pharmgkbrs2824721
gwascentralrs2824721
openSNPrs2824721
23andMers2824721
23andMe allrs2824721
SNP Nexus

SNPshotrs2824721
SNPdbers2824721
MSV3drs2824721
GWAS Ctlgrs2824721
GMAF0.2966
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PRSS7
allele A
frequency 0.792
sift TOLERATED
HuRef 1103643081453
Disease Association Defects in PRSS7 are a cause of enterokinase deficiency (MIM:226200); a life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive.



GET Evidence
TMPRSS15-P732S
aa_change Pro732Ser
aa_change_short P732S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.754091
summary