Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852951(A;C)
Make rs137852951(C;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position165995090
GeneTLL1
is asnp
is mentioned by
dbSNPrs137852951
dbSNP (classic)rs137852951
ClinGenrs137852951
ebirs137852951
HLIrs137852951
Exacrs137852951
Gnomadrs137852951
Varsomers137852951
LitVarrs137852951
Maprs137852951
PheGenIrs137852951
Biobankrs137852951
1000 genomesrs137852951
hgdprs137852951
ensemblrs137852951
geneviewrs137852951
scholarrs137852951
googlers137852951
pharmgkbrs137852951
gwascentralrs137852951
openSNPrs137852951
23andMers137852951
SNPshotrs137852951
SNPdbers137852951
MSV3drs137852951
GWAS Ctlgrs137852951
Max Magnitude0
OMIM606742
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852951(C;C) rs137852951(G;G)
Alt rs137852951(C;C) rs137852951(G;G)
Reference Rs137852951(A;A)
Significance Pathogenic
Disease Atrial septal defect 6 not specified
Variation info
Gene TLL1
CLNDBN Atrial septal defect 6 not specified
Reversed 0
HGVS NC_000004.11:g.166916242A>C; NC_000004.11:g.166916242A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004289.2, RCV000413781.1,