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rs587784459

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784459(G;T)
Make rs587784459(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55232660
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784459
ebirs587784459
HLIrs587784459
Exacrs587784459
Varsomers587784459
Maprs587784459
PheGenIrs587784459
hapmaprs587784459
1000 genomesrs587784459
hgdprs587784459
ensemblrs587784459
gopubmedrs587784459
geneviewrs587784459
scholarrs587784459
googlers587784459
pharmgkbrs587784459
gwascentralrs587784459
openSNPrs587784459
23andMers587784459
23andMe allrs587784459
SNP Nexus

SNPshotrs587784459
SNPdbers587784459
MSV3drs587784459
GWAS Ctlgrs587784459
Max Magnitude0
ClinVar
Risk rs587784459(T;T)
Alt rs587784459(T;T)
Reference rs587784459(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52899891C>A
CLNSRC
CLNACC RCV000147715.1,