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rs797046036

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046036(-;GT)
Make rs797046036(GT;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55279548
GeneTCF4
is asnp
is mentioned by
dbSNPrs797046036
ClinGenrs797046036
ebirs797046036
HLIrs797046036
Exacrs797046036
Varsomers797046036
Maprs797046036
PheGenIrs797046036
hapmaprs797046036
1000 genomesrs797046036
hgdprs797046036
ensemblrs797046036
gopubmedrs797046036
geneviewrs797046036
scholarrs797046036
googlers797046036
pharmgkbrs797046036
gwascentralrs797046036
openSNPrs797046036
23andMers797046036
23andMe allrs797046036
SNP Nexus

SNPshotrs797046036
SNPdbers797046036
MSV3drs797046036
GWAS Ctlgrs797046036
Max Magnitude0
ClinVar
Risk rs797046036(GT;GT)
Alt rs797046036(GT;GT)
Reference Rs797046036(-;-)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52946779_52946780insAC
CLNSRC
CLNACC RCV000194246.1,