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rs77200626

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs77200626(C;C)
Make rs77200626(C;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position18312975
GeneTMPRSS15
is asnp
is mentioned by
dbSNPrs77200626
ebirs77200626
HLIrs77200626
Exacrs77200626
Varsomers77200626
Maprs77200626
PheGenIrs77200626
hapmaprs77200626
1000 genomesrs77200626
hgdprs77200626
ensemblrs77200626
gopubmedrs77200626
geneviewrs77200626
scholarrs77200626
googlers77200626
pharmgkbrs77200626
gwascentralrs77200626
openSNPrs77200626
23andMers77200626
23andMe allrs77200626
SNP Nexus

SNPshotrs77200626
SNPdbers77200626
MSV3drs77200626
GWAS Ctlgrs77200626
GMAF0.0009183
Max Magnitude0
OMIM606635
Desc
Variant0001
Relatedalso
ClinVar
Risk rs77200626(C;C)
Alt rs77200626(C;C)
Reference rs77200626(G;G)
Significance Pathogenic
Disease Enterokinase deficiency
Variation info
Gene TMPRSS15
CLNDBN Enterokinase deficiency
Reversed 0
HGVS NC_000021.8:g.19685292G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004381.3,