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rs587784465

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784465(A;A)
Make rs587784465(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55279550
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784465
ebirs587784465
HLIrs587784465
Exacrs587784465
Varsomers587784465
Maprs587784465
PheGenIrs587784465
hapmaprs587784465
1000 genomesrs587784465
hgdprs587784465
ensemblrs587784465
gopubmedrs587784465
geneviewrs587784465
scholarrs587784465
googlers587784465
pharmgkbrs587784465
gwascentralrs587784465
openSNPrs587784465
23andMers587784465
23andMe allrs587784465
SNP Nexus

SNPshotrs587784465
SNPdbers587784465
MSV3drs587784465
GWAS Ctlgrs587784465
Max Magnitude0
ClinVar
Risk rs587784465(A,T;A,T)
Alt rs587784465(A,T;A,T)
Reference rs587784465(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52946781C>A; NC_000018.9:g.52946781C>T
CLNSRC
CLNACC RCV000154001.3, RCV000147724.1,