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rs587784468

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784468(-;-)
Make rs587784468(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55269962
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784468
ebirs587784468
HLIrs587784468
Exacrs587784468
Varsomers587784468
Maprs587784468
PheGenIrs587784468
hapmaprs587784468
1000 genomesrs587784468
hgdprs587784468
ensemblrs587784468
gopubmedrs587784468
geneviewrs587784468
scholarrs587784468
googlers587784468
pharmgkbrs587784468
gwascentralrs587784468
openSNPrs587784468
23andMers587784468
23andMe allrs587784468
SNP Nexus

SNPshotrs587784468
SNPdbers587784468
MSV3drs587784468
GWAS Ctlgrs587784468
Max Magnitude0
ClinVar
Risk rs587784468(;)
Alt rs587784468(;)
Reference rs587784468(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52937193delC
CLNSRC
CLNACC RCV000147728.1,