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rs587784460

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784460(G;T)
Make rs587784460(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55228985
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784460
ebirs587784460
HLIrs587784460
Exacrs587784460
Varsomers587784460
Maprs587784460
PheGenIrs587784460
hapmaprs587784460
1000 genomesrs587784460
hgdprs587784460
ensemblrs587784460
gopubmedrs587784460
geneviewrs587784460
scholarrs587784460
googlers587784460
pharmgkbrs587784460
gwascentralrs587784460
openSNPrs587784460
23andMers587784460
23andMe allrs587784460
SNP Nexus

SNPshotrs587784460
SNPdbers587784460
MSV3drs587784460
GWAS Ctlgrs587784460
Max Magnitude0
ClinVar
Risk rs587784460(T;T)
Alt rs587784460(T;T)
Reference rs587784460(G;G)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52896216C>A
CLNSRC
CLNACC RCV000147716.1,