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rs727504175

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504175(C;T)
Make rs727504175(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome18
Position55275660
GeneTCF4
is asnp
is mentioned by
dbSNPrs727504175
ebirs727504175
HLIrs727504175
Exacrs727504175
Varsomers727504175
Maprs727504175
PheGenIrs727504175
hapmaprs727504175
1000 genomesrs727504175
hgdprs727504175
ensemblrs727504175
gopubmedrs727504175
geneviewrs727504175
scholarrs727504175
googlers727504175
pharmgkbrs727504175
gwascentralrs727504175
openSNPrs727504175
23andMers727504175
23andMe allrs727504175
SNP Nexus

SNPshotrs727504175
SNPdbers727504175
MSV3drs727504175
GWAS Ctlgrs727504175
Max Magnitude0
ClinVar
Risk rs727504175(T;T)
Alt rs727504175(T;T)
Reference rs727504175(C;C)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52942891G>A
CLNSRC
CLNACC RCV000154000.3,