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

rs121909123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909123(C;C)
Make rs121909123(C;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position55228993
GeneTCF4
is asnp
is mentioned by
dbSNPrs121909123
ebirs121909123
HLIrs121909123
Exacrs121909123
Varsomers121909123
Maprs121909123
PheGenIrs121909123
hapmaprs121909123
1000 genomesrs121909123
hgdprs121909123
ensemblrs121909123
gopubmedrs121909123
geneviewrs121909123
scholarrs121909123
googlers121909123
pharmgkbrs121909123
gwascentralrs121909123
openSNPrs121909123
23andMers121909123
23andMe allrs121909123
SNP Nexus

SNPshotrs121909123
SNPdbers121909123
MSV3drs121909123
GWAS Ctlgrs121909123
Max Magnitude0
OMIM602272
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909123(A,C;A,C)
Alt rs121909123(A,C;A,C)
Reference rs121909123(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome not provided
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome not provided
Reversed 1
HGVS NC_000018.9:g.52896224C>G; NC_000018.9:g.52896224C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000007799.5, RCV000079458.4, RCV000189738.2,