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rs587784469

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587784469(A;A)
Make rs587784469(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55261466
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784469
ebirs587784469
HLIrs587784469
Exacrs587784469
Varsomers587784469
Maprs587784469
PheGenIrs587784469
hapmaprs587784469
1000 genomesrs587784469
hgdprs587784469
ensemblrs587784469
gopubmedrs587784469
geneviewrs587784469
scholarrs587784469
googlers587784469
pharmgkbrs587784469
gwascentralrs587784469
openSNPrs587784469
23andMers587784469
23andMe allrs587784469
SNP Nexus

SNPshotrs587784469
SNPdbers587784469
MSV3drs587784469
GWAS Ctlgrs587784469
Max Magnitude0
ClinVar
Risk rs587784469(A;A)
Alt rs587784469(A;A)
Reference rs587784469(G;G)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52928697C>T
CLNSRC
CLNACC RCV000147730.1,