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rs137852952

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852952(C;C)
Make rs137852952(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position166003471
GeneTLL1
is asnp
is mentioned by
dbSNPrs137852952
dbSNP (classic)rs137852952
ClinGenrs137852952
ebirs137852952
HLIrs137852952
Exacrs137852952
Gnomadrs137852952
Varsomers137852952
LitVarrs137852952
Maprs137852952
PheGenIrs137852952
Biobankrs137852952
1000 genomesrs137852952
hgdprs137852952
ensemblrs137852952
geneviewrs137852952
scholarrs137852952
googlers137852952
pharmgkbrs137852952
gwascentralrs137852952
openSNPrs137852952
23andMers137852952
SNPshotrs137852952
SNPdbers137852952
MSV3drs137852952
GWAS Ctlgrs137852952
Max Magnitude0
OMIM606742
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852952(C;C)
Alt rs137852952(C;C)
Reference Rs137852952(T;T)
Significance Pathogenic
Disease Atrial septal defect 6
Variation info
Gene TLL1
CLNDBN Atrial septal defect 6
Reversed 0
HGVS NC_000004.11:g.166924623T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004290.2,