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rs727504174

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504174(-;-)
Make rs727504174(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55234620
GeneTCF4
is asnp
is mentioned by
dbSNPrs727504174
ebirs727504174
HLIrs727504174
Exacrs727504174
Varsomers727504174
Maprs727504174
PheGenIrs727504174
hapmaprs727504174
1000 genomesrs727504174
hgdprs727504174
ensemblrs727504174
gopubmedrs727504174
geneviewrs727504174
scholarrs727504174
googlers727504174
pharmgkbrs727504174
gwascentralrs727504174
openSNPrs727504174
23andMers727504174
23andMe allrs727504174
SNP Nexus

SNPshotrs727504174
SNPdbers727504174
MSV3drs727504174
GWAS Ctlgrs727504174
Max Magnitude0
ClinVar
Risk rs727504174(;)
Alt rs727504174(;)
Reference rs727504174(G;G)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52901851delC
CLNSRC HGMD
CLNACC RCV000153998.3,