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rs727505396

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727505396(C;T)
Make rs727505396(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55234596
GeneTCF4
is asnp
is mentioned by
dbSNPrs727505396
ebirs727505396
HLIrs727505396
Exacrs727505396
Varsomers727505396
Maprs727505396
PheGenIrs727505396
hapmaprs727505396
1000 genomesrs727505396
hgdprs727505396
ensemblrs727505396
gopubmedrs727505396
geneviewrs727505396
scholarrs727505396
googlers727505396
pharmgkbrs727505396
gwascentralrs727505396
openSNPrs727505396
23andMers727505396
23andMe allrs727505396
SNP Nexus

SNPshotrs727505396
SNPdbers727505396
MSV3drs727505396
GWAS Ctlgrs727505396
Max Magnitude0
ClinVar
Risk rs727505396(T;T)
Alt rs727505396(T;T)
Reference rs727505396(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52901827G>A
CLNSRC
CLNACC RCV000157067.2,