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rs587784463

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587784463(-;-)
Make rs587784463(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55350958
GeneTCF4
is asnp
is mentioned by
dbSNPrs587784463
ebirs587784463
HLIrs587784463
Exacrs587784463
Varsomers587784463
Maprs587784463
PheGenIrs587784463
hapmaprs587784463
1000 genomesrs587784463
hgdprs587784463
ensemblrs587784463
gopubmedrs587784463
geneviewrs587784463
scholarrs587784463
googlers587784463
pharmgkbrs587784463
gwascentralrs587784463
openSNPrs587784463
23andMers587784463
23andMe allrs587784463
SNP Nexus

SNPshotrs587784463
SNPdbers587784463
MSV3drs587784463
GWAS Ctlgrs587784463
Max Magnitude0
ClinVar
Risk rs587784463(;)
Alt rs587784463(;)
Reference rs587784463(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.53018189delG
CLNSRC
CLNACC RCV000147722.1,