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rs587777371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 possible causal congenital heart defect mutation
(C;C) 0 common in clinvar


Make rs587777371(A;A)
ReferenceGRCh38 38.1/142
Chromosome15
Position96337399
GeneNR2F2
is asnp
is mentioned by
dbSNPrs587777371
dbSNP (classic)rs587777371
ClinGenrs587777371
ebirs587777371
HLIrs587777371
Exacrs587777371
Gnomadrs587777371
Varsomers587777371
LitVarrs587777371
Maprs587777371
PheGenIrs587777371
Biobankrs587777371
1000 genomesrs587777371
hgdprs587777371
ensemblrs587777371
geneviewrs587777371
scholarrs587777371
googlers587777371
pharmgkbrs587777371
gwascentralrs587777371
openSNPrs587777371
23andMers587777371
SNPshotrs587777371
SNPdbers587777371
MSV3drs587777371
GWAS Ctlgrs587777371
Max Magnitude6
ClinVar
Risk rs587777371(A;A)
Alt rs587777371(A;A)
Reference Rs587777371(C;C)
Significance Pathogenic
Disease Congenital heart defects not provided
Variation info
Gene NR2F2
CLNDBN Congenital heart defects, multiple types, 4 not provided
Reversed 0
HGVS NC_000015.9:g.96880628C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000116199.4, RCV000494657.1,