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rs1057518848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518848(-;CAAT)
Make rs1057518848(CAAT;CAAT)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position55229003
GeneTCF4
is asnp
is mentioned by
dbSNPrs1057518848
dbSNP (old)rs1057518848
ClinGenrs1057518848
ebirs1057518848
HLIrs1057518848
Exacrs1057518848
Gnomadrs1057518848
Varsomers1057518848
Maprs1057518848
PheGenIrs1057518848
Biobankrs1057518848
1000 genomesrs1057518848
hgdprs1057518848
ensemblrs1057518848
gopubmedrs1057518848
geneviewrs1057518848
scholarrs1057518848
googlers1057518848
pharmgkbrs1057518848
gwascentralrs1057518848
openSNPrs1057518848
23andMers1057518848
23andMe allrs1057518848
SNPshotrs1057518848
SNPdbers1057518848
MSV3drs1057518848
GWAS Ctlgrs1057518848
Max Magnitude0
ClinVar
Risk rs1057518848(CAAT;CAAT)
Alt rs1057518848(CAAT;CAAT)
Reference Rs1057518848(-;-)
Significance Pathogenic
Disease Cerebral hypoplasia Global developmental delay
Variation info
Gene TCF4
CLNDBN Cerebral hypoplasia Global developmental delay
Reversed 1
HGVS NC_000018.9:g.52896235_52896238dupATTG
CLNSRC
CLNACC RCV000415111.1,