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rs797045072

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045072(G;T)
Make rs797045072(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55259948
GeneTCF4
is asnp
is mentioned by
dbSNPrs797045072
ebirs797045072
HLIrs797045072
Exacrs797045072
Varsomers797045072
Maprs797045072
PheGenIrs797045072
hapmaprs797045072
1000 genomesrs797045072
hgdprs797045072
ensemblrs797045072
gopubmedrs797045072
geneviewrs797045072
scholarrs797045072
googlers797045072
pharmgkbrs797045072
gwascentralrs797045072
openSNPrs797045072
23andMers797045072
23andMe allrs797045072
SNP Nexus

SNPshotrs797045072
SNPdbers797045072
MSV3drs797045072
GWAS Ctlgrs797045072
Max Magnitude0
ClinVar
Risk rs797045072(T;T)
Alt rs797045072(T;T)
Reference rs797045072(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52927179C>A
CLNSRC Baylor College of Medicine
CLNACC RCV000191133.1,