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rs1057518864

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518864(A;A)
Make rs1057518864(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position55350409
GeneTCF4
is asnp
is mentioned by
dbSNPrs1057518864
dbSNP (old)rs1057518864
ClinGenrs1057518864
ebirs1057518864
HLIrs1057518864
Exacrs1057518864
Gnomadrs1057518864
Varsomers1057518864
Maprs1057518864
PheGenIrs1057518864
Biobankrs1057518864
1000 genomesrs1057518864
hgdprs1057518864
ensemblrs1057518864
gopubmedrs1057518864
geneviewrs1057518864
scholarrs1057518864
googlers1057518864
pharmgkbrs1057518864
gwascentralrs1057518864
openSNPrs1057518864
23andMers1057518864
23andMe allrs1057518864
SNPshotrs1057518864
SNPdbers1057518864
MSV3drs1057518864
GWAS Ctlgrs1057518864
Max Magnitude0
ClinVar
Risk rs1057518864(A;A)
Alt rs1057518864(A;A)
Reference Rs1057518864(G;G)
Significance Pathogenic
Disease Anteverted nares Drooling Epicanthus Feeding difficulties in infancy Global developmental delay Short nose Stereotypy
Variation info
Gene TCF4
CLNDBN Anteverted nares Drooling Epicanthus Feeding difficulties in infancy Global developmental delay Short nose Stereotypy
Reversed 1
HGVS NC_000018.9:g.53017640C>T
CLNSRC
CLNACC RCV000414838.1,