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rs398123561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAG;AAAG) 0 common in clinvar
Make rs398123561(-;-)
Make rs398123561(-;AAAG)
ReferenceGRCh38 38.1/141
Chromosome18
Position55350391
GeneTCF4
is asnp
is mentioned by
dbSNPrs398123561
ebirs398123561
HLIrs398123561
Exacrs398123561
Varsomers398123561
Maprs398123561
PheGenIrs398123561
hapmaprs398123561
1000 genomesrs398123561
hgdprs398123561
ensemblrs398123561
gopubmedrs398123561
geneviewrs398123561
scholarrs398123561
googlers398123561
pharmgkbrs398123561
gwascentralrs398123561
openSNPrs398123561
23andMers398123561
23andMe allrs398123561
SNP Nexus

SNPshotrs398123561
SNPdbers398123561
MSV3drs398123561
GWAS Ctlgrs398123561
Max Magnitude0
ClinVar
Risk rs398123561(;)
Alt rs398123561(;)
Reference rs398123561(AAAG;AAAG)
Significance Pathogenic
Disease Pitt-Hopkins syndrome Intellectual disability
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome Intellectual disability
Reversed 1
HGVS NC_000018.9:g.53017622_53017625delCTTT
CLNSRC HGMD
CLNACC RCV000079461.4, RCV000224701.1,