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rs375086983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375086983(G;T)
Make rs375086983(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position173232696
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs375086983
ebirs375086983
HLIrs375086983
Exacrs375086983
Varsomers375086983
Maprs375086983
PheGenIrs375086983
hapmaprs375086983
1000 genomesrs375086983
hgdprs375086983
ensemblrs375086983
gopubmedrs375086983
geneviewrs375086983
scholarrs375086983
googlers375086983
pharmgkbrs375086983
gwascentralrs375086983
openSNPrs375086983
23andMers375086983
23andMe allrs375086983
SNP Nexus

SNPshotrs375086983
SNPdbers375086983
MSV3drs375086983
GWAS Ctlgrs375086983
Max Magnitude0
ClinVar
Risk rs375086983(T;T)
Alt rs375086983(T;T)
Reference rs375086983(G;G)
Significance Pathogenic
Disease Ventricular septal defect 3
Variation info
Gene NKX2-5
CLNDBN Ventricular septal defect 3
Reversed 0
HGVS NC_000005.9:g.172659699G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023023.2,