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rs2824790

From SNPedia

Orientationplus
Stabilizedplus
Make rs2824790(C;C)
Make rs2824790(C;G)
Make rs2824790(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position18383723
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs2824790
ebirs2824790
HLIrs2824790
Exacrs2824790
Varsomers2824790
Maprs2824790
PheGenIrs2824790
hapmaprs2824790
1000 genomesrs2824790
hgdprs2824790
ensemblrs2824790
gopubmedrs2824790
geneviewrs2824790
scholarrs2824790
googlers2824790
pharmgkbrs2824790
gwascentralrs2824790
openSNPrs2824790
23andMers2824790
23andMe allrs2824790
SNP Nexus

SNPshotrs2824790
SNPdbers2824790
MSV3drs2824790
GWAS Ctlgrs2824790
GMAF0.2392
Max Magnitude
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene PRSS7
allele G
frequency 0.375
sift AFFECT FUNCTION
HuRef 1103643081599
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-E134Q
aa_change Glu134Gln
aa_change_short E134Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.271798
summary