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rs587784462

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784462(C;C)
Make rs587784462(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55228886
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784462
ebirs587784462
HLIrs587784462
Exacrs587784462
Varsomers587784462
Maprs587784462
PheGenIrs587784462
hapmaprs587784462
1000 genomesrs587784462
hgdprs587784462
ensemblrs587784462
gopubmedrs587784462
geneviewrs587784462
scholarrs587784462
googlers587784462
pharmgkbrs587784462
gwascentralrs587784462
openSNPrs587784462
23andMers587784462
23andMe allrs587784462
SNP Nexus

SNPshotrs587784462
SNPdbers587784462
MSV3drs587784462
GWAS Ctlgrs587784462
Max Magnitude0
ClinVar
Risk rs587784462(C;C)
Alt rs587784462(C;C)
Reference rs587784462(G;G)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52896117C>G
CLNSRC
CLNACC RCV000147718.1,