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rs1057516047

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516047(C;T)
Make rs1057516047(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position47073816
GeneTTC7A
is asnp
is mentioned by
dbSNPrs1057516047
dbSNP (classic)rs1057516047
ClinGenrs1057516047
ebirs1057516047
HLIrs1057516047
Exacrs1057516047
Gnomadrs1057516047
Varsomers1057516047
LitVarrs1057516047
Maprs1057516047
PheGenIrs1057516047
Biobankrs1057516047
1000 genomesrs1057516047
hgdprs1057516047
ensemblrs1057516047
geneviewrs1057516047
scholarrs1057516047
googlers1057516047
pharmgkbrs1057516047
gwascentralrs1057516047
openSNPrs1057516047
23andMers1057516047
SNPshotrs1057516047
SNPdbers1057516047
MSV3drs1057516047
GWAS Ctlgrs1057516047
Max Magnitude0
ClinVar
Risk rs1057516047(T;T)
Alt rs1057516047(T;T)
Reference Rs1057516047(C;C)
Significance Pathogenic
Disease Multiple gastrointestinal atresias
Variation info
Gene TTC7A
CLNDBN Multiple gastrointestinal atresias
Reversed 0
HGVS NC_000002.11:g.47300955C>T
CLNSRC
CLNACC RCV000408605.1,