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rs587776972

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776972(C;C)
Make rs587776972(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position47073814
GeneTTC7A
is asnp
is mentioned by
dbSNPrs587776972
dbSNP (classic)rs587776972
ClinGenrs587776972
ebirs587776972
HLIrs587776972
Exacrs587776972
Gnomadrs587776972
Varsomers587776972
LitVarrs587776972
Maprs587776972
PheGenIrs587776972
Biobankrs587776972
1000 genomesrs587776972
hgdprs587776972
ensemblrs587776972
geneviewrs587776972
scholarrs587776972
googlers587776972
pharmgkbrs587776972
gwascentralrs587776972
openSNPrs587776972
23andMers587776972
SNPshotrs587776972
SNPdbers587776972
MSV3drs587776972
GWAS Ctlgrs587776972
Max Magnitude0
ClinVar
Risk rs587776972(C;C)
Alt rs587776972(C;C)
Reference Rs587776972(T;T)
Significance Pathogenic
Disease Multiple gastrointestinal atresias not provided
Variation info
Gene TTC7A
CLNDBN Multiple gastrointestinal atresias not provided
Reversed 0
HGVS NC_000002.11:g.47300953T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043554.3, RCV000432704.1,