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rs797046033

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797046033(C;T)
Make rs797046033(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55234623
GeneTCF4
is asnp
is mentioned by
dbSNPrs797046033
ebirs797046033
HLIrs797046033
Exacrs797046033
Varsomers797046033
Maprs797046033
PheGenIrs797046033
hapmaprs797046033
1000 genomesrs797046033
hgdprs797046033
ensemblrs797046033
gopubmedrs797046033
geneviewrs797046033
scholarrs797046033
googlers797046033
pharmgkbrs797046033
gwascentralrs797046033
openSNPrs797046033
23andMers797046033
23andMe allrs797046033
SNP Nexus

SNPshotrs797046033
SNPdbers797046033
MSV3drs797046033
GWAS Ctlgrs797046033
Max Magnitude0
ClinVar
Risk rs797046033(T;T)
Alt rs797046033(T;T)
Reference rs797046033(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52901854G>A
CLNSRC
CLNACC RCV000195129.1,