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rs121909120

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909120(C;T)
Make rs121909120(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position55228988
GeneTCF4
is asnp
is mentioned by
dbSNPrs121909120
ebirs121909120
HLIrs121909120
Exacrs121909120
Varsomers121909120
Maprs121909120
PheGenIrs121909120
hapmaprs121909120
1000 genomesrs121909120
hgdprs121909120
ensemblrs121909120
gopubmedrs121909120
geneviewrs121909120
scholarrs121909120
googlers121909120
pharmgkbrs121909120
gwascentralrs121909120
openSNPrs121909120
23andMers121909120
23andMe allrs121909120
SNP Nexus

SNPshotrs121909120
SNPdbers121909120
MSV3drs121909120
GWAS Ctlgrs121909120
Max Magnitude0
OMIM602272
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909120(T;T)
Alt rs121909120(T;T)
Reference rs121909120(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52896219G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007795.2,