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rs864321650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321650(C;G)
Make rs864321650(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position173234902
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs864321650
dbSNP (classic)rs864321650
ClinGenrs864321650
ebirs864321650
HLIrs864321650
Exacrs864321650
Gnomadrs864321650
Varsomers864321650
LitVarrs864321650
Maprs864321650
PheGenIrs864321650
Biobankrs864321650
1000 genomesrs864321650
hgdprs864321650
ensemblrs864321650
geneviewrs864321650
scholarrs864321650
googlers864321650
pharmgkbrs864321650
gwascentralrs864321650
openSNPrs864321650
23andMers864321650
SNPshotrs864321650
SNPdbers864321650
MSV3drs864321650
GWAS Ctlgrs864321650
Max Magnitude0
ClinVar
Risk rs864321650(G;G)
Alt rs864321650(G;G)
Reference Rs864321650(C;C)
Significance Pathogenic
Disease Congenital heart disease
Variation info
Gene NKX2-5
CLNDBN Congenital heart disease
Reversed 1
HGVS NC_000005.9:g.172661905G>C
CLNSRC
CLNACC RCV000203543.1,