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rs587777372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 possible congenital heart defect mutation
Make rs587777372(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position96334247
GeneNR2F2
is asnp
is mentioned by
dbSNPrs587777372
dbSNP (classic)rs587777372
ClinGenrs587777372
ebirs587777372
HLIrs587777372
Exacrs587777372
Gnomadrs587777372
Varsomers587777372
LitVarrs587777372
Maprs587777372
PheGenIrs587777372
Biobankrs587777372
1000 genomesrs587777372
hgdprs587777372
ensemblrs587777372
geneviewrs587777372
scholarrs587777372
googlers587777372
pharmgkbrs587777372
gwascentralrs587777372
openSNPrs587777372
23andMers587777372
SNPshotrs587777372
SNPdbers587777372
MSV3drs587777372
GWAS Ctlgrs587777372
Max Magnitude6
ClinVar
Risk rs587777372(T;T)
Alt rs587777372(T;T)
Reference Rs587777372(A;A)
Significance Pathogenic
Disease Congenital heart defects
Variation info
Gene NR2F2
CLNDBN Congenital heart defects, multiple types, 4
Reversed 0
HGVS NC_000015.9:g.96877476A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000116200.4,