Have questions? Visit https://www.reddit.com/r/SNPedia

rs864321648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321648(A;A)
Make rs864321648(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position173233153
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs864321648
dbSNP (classic)rs864321648
ClinGenrs864321648
ebirs864321648
HLIrs864321648
Exacrs864321648
Gnomadrs864321648
Varsomers864321648
LitVarrs864321648
Maprs864321648
PheGenIrs864321648
Biobankrs864321648
1000 genomesrs864321648
hgdprs864321648
ensemblrs864321648
geneviewrs864321648
scholarrs864321648
googlers864321648
pharmgkbrs864321648
gwascentralrs864321648
openSNPrs864321648
23andMers864321648
SNPshotrs864321648
SNPdbers864321648
MSV3drs864321648
GWAS Ctlgrs864321648
Max Magnitude0
ClinVar
Risk rs864321648(A;A)
Alt rs864321648(A;A)
Reference Rs864321648(G;G)
Significance Pathogenic
Disease Congenital heart disease
Variation info
Gene NKX2-5
CLNDBN Congenital heart disease
Reversed 1
HGVS NC_000005.9:g.172660156C>T
CLNSRC
CLNACC RCV000203502.1,