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rs703752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs703752(A;A)
Make rs703752(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173232508
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs703752
dbSNP (classic)rs703752
ClinGenrs703752
ebirs703752
HLIrs703752
Exacrs703752
Gnomadrs703752
Varsomers703752
LitVarrs703752
Maprs703752
PheGenIrs703752
Biobankrs703752
1000 genomesrs703752
hgdprs703752
ensemblrs703752
geneviewrs703752
scholarrs703752
googlers703752
pharmgkbrs703752
gwascentralrs703752
openSNPrs703752
23andMers703752
SNPshotrs703752
SNPdbers703752
MSV3drs703752
GWAS Ctlgrs703752
Max Magnitude0
? (A;A) (A;C) (C;C) 28


[PMID 26297999] Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population

ClinVar
Risk rs703752(A;A) rs703752(G;G)
Alt rs703752(A;A) rs703752(G;G)
Reference Rs703752(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene NKX2-5
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.172659511C>A
CLNSRC
CLNACC RCV000192692.1,