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rs797045003

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045003(C;T)
Make rs797045003(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55261488
GeneTCF4
is asnp
is mentioned by
dbSNPrs797045003
ebirs797045003
HLIrs797045003
Exacrs797045003
Varsomers797045003
Maprs797045003
PheGenIrs797045003
hapmaprs797045003
1000 genomesrs797045003
hgdprs797045003
ensemblrs797045003
gopubmedrs797045003
geneviewrs797045003
scholarrs797045003
googlers797045003
pharmgkbrs797045003
gwascentralrs797045003
openSNPrs797045003
23andMers797045003
23andMe allrs797045003
SNP Nexus

SNPshotrs797045003
SNPdbers797045003
MSV3drs797045003
GWAS Ctlgrs797045003
Max Magnitude0
ClinVar
Risk rs797045003(T;T)
Alt rs797045003(T;T)
Reference rs797045003(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52928719G>A
CLNSRC
CLNACC RCV000190500.1,