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rs587777373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GCA) 6 possible causal congenital heart defect mutation
Make rs587777373(GCA;GCA)
ReferenceGRCh38 38.1/142
Chromosome15
Position96332329
GeneMIR1469, NR2F2
is asnp
is mentioned by
dbSNPrs587777373
dbSNP (classic)rs587777373
ClinGenrs587777373
ebirs587777373
HLIrs587777373
Exacrs587777373
Gnomadrs587777373
Varsomers587777373
LitVarrs587777373
Maprs587777373
PheGenIrs587777373
Biobankrs587777373
1000 genomesrs587777373
hgdprs587777373
ensemblrs587777373
geneviewrs587777373
scholarrs587777373
googlers587777373
pharmgkbrs587777373
gwascentralrs587777373
openSNPrs587777373
23andMers587777373
SNPshotrs587777373
SNPdbers587777373
MSV3drs587777373
GWAS Ctlgrs587777373
Max Magnitude6
ClinVar
Risk rs587777373(AGC;AGC) rs587777373(GCA;GCA)
Alt rs587777373(AGC;AGC) rs587777373(GCA;GCA)
Reference Rs587777373(-;-)
Significance Pathogenic
Disease Congenital heart defects
Variation info
Gene NR2F2 MIR1469
CLNDBN Congenital heart defects, multiple types, 4
Reversed 0
HGVS NC_000015.9:g.96875556_96875558dupGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000116201.4,