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rs786200992

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200992(-;-)
Make rs786200992(-;A)
Make rs786200992(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position55234676
GeneTCF4
is asnp
is mentioned by
dbSNPrs786200992
ebirs786200992
HLIrs786200992
Exacrs786200992
Varsomers786200992
Maprs786200992
PheGenIrs786200992
hapmaprs786200992
1000 genomesrs786200992
hgdprs786200992
ensemblrs786200992
gopubmedrs786200992
geneviewrs786200992
scholarrs786200992
googlers786200992
pharmgkbrs786200992
gwascentralrs786200992
openSNPrs786200992
23andMers786200992
23andMe allrs786200992
SNP Nexus

SNPshotrs786200992
SNPdbers786200992
MSV3drs786200992
GWAS Ctlgrs786200992
Max Magnitude0
ClinVar
Risk rs786200992(A;A)
Alt rs786200992(A;A)
Reference rs786200992(;)
Significance Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52901908dupT
CLNSRC
CLNACC RCV000153999.2,