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rs797046034

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797046034(A;C)
Make rs797046034(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55228855
GeneTCF4
is asnp
is mentioned by
dbSNPrs797046034
ebirs797046034
HLIrs797046034
Exacrs797046034
Varsomers797046034
Maprs797046034
PheGenIrs797046034
hapmaprs797046034
1000 genomesrs797046034
hgdprs797046034
ensemblrs797046034
gopubmedrs797046034
geneviewrs797046034
scholarrs797046034
googlers797046034
pharmgkbrs797046034
gwascentralrs797046034
openSNPrs797046034
23andMers797046034
23andMe allrs797046034
SNP Nexus

SNPshotrs797046034
SNPdbers797046034
MSV3drs797046034
GWAS Ctlgrs797046034
Max Magnitude0
ClinVar
Risk rs797046034(C;C)
Alt rs797046034(C;C)
Reference rs797046034(A;A)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52896086T>G
CLNSRC
CLNACC RCV000193169.1,