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rs863224934

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224934(A;G)
Make rs863224934(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55279658
GeneTCF4
is asnp
is mentioned by
dbSNPrs863224934
ebirs863224934
HLIrs863224934
Exacrs863224934
Varsomers863224934
Maprs863224934
PheGenIrs863224934
hapmaprs863224934
1000 genomesrs863224934
hgdprs863224934
ensemblrs863224934
gopubmedrs863224934
geneviewrs863224934
scholarrs863224934
googlers863224934
pharmgkbrs863224934
gwascentralrs863224934
openSNPrs863224934
23andMers863224934
23andMe allrs863224934
SNP Nexus

SNPshotrs863224934
SNPdbers863224934
MSV3drs863224934
GWAS Ctlgrs863224934
Max Magnitude0
ClinVar
Risk rs863224934(G;G)
Alt rs863224934(G;G)
Reference rs863224934(A;A)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52946889T>C
CLNSRC
CLNACC RCV000198247.1,