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rs587784470

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587784470(A;G)
Make rs587784470(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55260029
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784470
ebirs587784470
HLIrs587784470
Exacrs587784470
Varsomers587784470
Maprs587784470
PheGenIrs587784470
hapmaprs587784470
1000 genomesrs587784470
hgdprs587784470
ensemblrs587784470
gopubmedrs587784470
geneviewrs587784470
scholarrs587784470
googlers587784470
pharmgkbrs587784470
gwascentralrs587784470
openSNPrs587784470
23andMers587784470
23andMe allrs587784470
SNP Nexus

SNPshotrs587784470
SNPdbers587784470
MSV3drs587784470
GWAS Ctlgrs587784470
Max Magnitude0
ClinVar
Risk rs587784470(G;G)
Alt rs587784470(G;G)
Reference rs587784470(A;A)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52927260T>C
CLNSRC
CLNACC RCV000147731.1,