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rs121909122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909122(C;T)
Make rs121909122(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position55254694
GeneTCF4
is asnp
is mentioned by
dbSNPrs121909122
ebirs121909122
HLIrs121909122
Exacrs121909122
Varsomers121909122
Maprs121909122
PheGenIrs121909122
hapmaprs121909122
1000 genomesrs121909122
hgdprs121909122
ensemblrs121909122
gopubmedrs121909122
geneviewrs121909122
scholarrs121909122
googlers121909122
pharmgkbrs121909122
gwascentralrs121909122
openSNPrs121909122
23andMers121909122
23andMe allrs121909122
SNP Nexus

SNPshotrs121909122
SNPdbers121909122
MSV3drs121909122
GWAS Ctlgrs121909122
Max Magnitude0
OMIM602272
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909122(T;T)
Alt rs121909122(T;T)
Reference rs121909122(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52921925G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007797.4,