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rs587784466

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784466(C;C)
Make rs587784466(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55275753
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784466
ebirs587784466
HLIrs587784466
Exacrs587784466
Varsomers587784466
Maprs587784466
PheGenIrs587784466
hapmaprs587784466
1000 genomesrs587784466
hgdprs587784466
ensemblrs587784466
gopubmedrs587784466
geneviewrs587784466
scholarrs587784466
googlers587784466
pharmgkbrs587784466
gwascentralrs587784466
openSNPrs587784466
23andMers587784466
23andMe allrs587784466
SNP Nexus

SNPshotrs587784466
SNPdbers587784466
MSV3drs587784466
GWAS Ctlgrs587784466
Max Magnitude0
ClinVar
Risk rs587784466(C;C)
Alt rs587784466(C;C)
Reference rs587784466(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52942984C>G
CLNSRC
CLNACC RCV000147725.1,