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rs587784464

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784464(C;T)
Make rs587784464(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55350904
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784464
ebirs587784464
HLIrs587784464
Exacrs587784464
Varsomers587784464
Maprs587784464
PheGenIrs587784464
hapmaprs587784464
1000 genomesrs587784464
hgdprs587784464
ensemblrs587784464
gopubmedrs587784464
geneviewrs587784464
scholarrs587784464
googlers587784464
pharmgkbrs587784464
gwascentralrs587784464
openSNPrs587784464
23andMers587784464
23andMe allrs587784464
SNP Nexus

SNPshotrs587784464
SNPdbers587784464
MSV3drs587784464
GWAS Ctlgrs587784464
Max Magnitude0
ClinVar
Risk rs587784464(T;T)
Alt rs587784464(T;T)
Reference rs587784464(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.53018135G>A
CLNSRC
CLNACC RCV000147723.1,