Have questions? Visit https://www.reddit.com/r/SNPedia

rs398123560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123560(A;A)
Make rs398123560(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position55257375
GeneTCF4
is asnp
is mentioned by
dbSNPrs398123560
ebirs398123560
HLIrs398123560
Exacrs398123560
Varsomers398123560
Maprs398123560
PheGenIrs398123560
hapmaprs398123560
1000 genomesrs398123560
hgdprs398123560
ensemblrs398123560
gopubmedrs398123560
geneviewrs398123560
scholarrs398123560
googlers398123560
pharmgkbrs398123560
gwascentralrs398123560
openSNPrs398123560
23andMers398123560
23andMe allrs398123560
SNP Nexus

SNPshotrs398123560
SNPdbers398123560
MSV3drs398123560
GWAS Ctlgrs398123560
Max Magnitude0
ClinVar
Risk rs398123560(A;A)
Alt rs398123560(A;A)
Reference rs398123560(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52924606C>T
CLNSRC ClinVar Emory University
CLNACC RCV000079456.4,