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rs587777547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777547(C;T)
Make rs587777547(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position46993514
GeneTTC7A
is asnp
is mentioned by
dbSNPrs587777547
dbSNP (classic)rs587777547
ClinGenrs587777547
ebirs587777547
HLIrs587777547
Exacrs587777547
Gnomadrs587777547
Varsomers587777547
LitVarrs587777547
Maprs587777547
PheGenIrs587777547
Biobankrs587777547
1000 genomesrs587777547
hgdprs587777547
ensemblrs587777547
geneviewrs587777547
scholarrs587777547
googlers587777547
pharmgkbrs587777547
gwascentralrs587777547
openSNPrs587777547
23andMers587777547
SNPshotrs587777547
SNPdbers587777547
MSV3drs587777547
GWAS Ctlgrs587777547
Max Magnitude0
ClinVar
Risk rs587777547(T;T)
Alt rs587777547(T;T)
Reference Rs587777547(C;C)
Significance Pathogenic
Disease Multiple gastrointestinal atresias
Variation info
Gene TTC7A
CLNDBN Multiple gastrointestinal atresias
Reversed 0
HGVS NC_000002.11:g.47220653C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128794.3,