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rs587784458

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784458(A;A)
Make rs587784458(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55257314
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784458
ebirs587784458
HLIrs587784458
Exacrs587784458
Varsomers587784458
Maprs587784458
PheGenIrs587784458
hapmaprs587784458
1000 genomesrs587784458
hgdprs587784458
ensemblrs587784458
gopubmedrs587784458
geneviewrs587784458
scholarrs587784458
googlers587784458
pharmgkbrs587784458
gwascentralrs587784458
openSNPrs587784458
23andMers587784458
23andMe allrs587784458
SNP Nexus

SNPshotrs587784458
SNPdbers587784458
MSV3drs587784458
GWAS Ctlgrs587784458
Max Magnitude0
ClinVar
Risk rs587784458(A;A)
Alt rs587784458(A;A)
Reference rs587784458(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52924545C>T
CLNSRC
CLNACC RCV000147712.1,