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rs1057519592

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519592(-;T)
Make rs1057519592(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position55257324
GeneTCF4
is asnp
is mentioned by
dbSNPrs1057519592
dbSNP (old)rs1057519592
ClinGenrs1057519592
ebirs1057519592
HLIrs1057519592
Exacrs1057519592
Gnomadrs1057519592
Varsomers1057519592
Maprs1057519592
PheGenIrs1057519592
Biobankrs1057519592
1000 genomesrs1057519592
hgdprs1057519592
ensemblrs1057519592
gopubmedrs1057519592
geneviewrs1057519592
scholarrs1057519592
googlers1057519592
pharmgkbrs1057519592
gwascentralrs1057519592
openSNPrs1057519592
23andMers1057519592
23andMe allrs1057519592
SNPshotrs1057519592
SNPdbers1057519592
MSV3drs1057519592
GWAS Ctlgrs1057519592
Max Magnitude0
ClinVar
Risk rs1057519592(T;T)
Alt rs1057519592(T;T)
Reference Rs1057519592(-;-)
Significance Probable-Pathogenic
Disease Pitt-Hopkins syndrome
Variation info
Gene TCF4
CLNDBN Pitt-Hopkins syndrome
Reversed 1
HGVS NC_000018.9:g.52924556dupA
CLNSRC
CLNACC RCV000417112.1,