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rs2309428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
(C;C) 0 common in clinvar
Make rs2309428(A;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position69228107
GeneTJP2
is asnp
is mentioned by
dbSNPrs2309428
ebirs2309428
HLIrs2309428
Exacrs2309428
Varsomers2309428
Maprs2309428
PheGenIrs2309428
hapmaprs2309428
1000 genomesrs2309428
hgdprs2309428
ensemblrs2309428
gopubmedrs2309428
geneviewrs2309428
scholarrs2309428
googlers2309428
pharmgkbrs2309428
gwascentralrs2309428
openSNPrs2309428
23andMers2309428
23andMe allrs2309428
SNP Nexus

SNPshotrs2309428
SNPdbers2309428
MSV3drs2309428
GWAS Ctlgrs2309428
GMAF0.1938
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene TJP2
allele A
frequency 0.992
sift TOLERATED
HuRef 1103652088376
Disease Association Defects in TJP2 are involved in familial hypercholanemia (FHCA) (MIM:607748). FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.



[PMID 20403199OA-icon.png] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.


GET Evidence
TJP2-D513E
aa_change Asp513Glu
aa_change_short D513E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2309428(A;A)
Alt rs2309428(A;A)
Reference rs2309428(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene TJP2
CLNDBN not specified
Reversed 0
HGVS NC_000009.11:g.71843023C>A
CLNSRC ClinVar
CLNACC RCV000037067.2,