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rs797045790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAG;CAG) 0 common in clinvar
Make rs797045790(CAG;GTACCGTT)
Make rs797045790(GTACCGTT;GTACCGTT)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position173233064
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs797045790
ClinGenrs797045790
ebirs797045790
HLIrs797045790
Exacrs797045790
Varsomers797045790
Maprs797045790
PheGenIrs797045790
hapmaprs797045790
1000 genomesrs797045790
hgdprs797045790
ensemblrs797045790
gopubmedrs797045790
geneviewrs797045790
scholarrs797045790
googlers797045790
pharmgkbrs797045790
gwascentralrs797045790
openSNPrs797045790
23andMers797045790
23andMe allrs797045790
SNP Nexus

SNPshotrs797045790
SNPdbers797045790
MSV3drs797045790
GWAS Ctlgrs797045790
Max Magnitude0
ClinVar
Risk rs797045790(GTACCGTT;GTACCGTT)
Alt rs797045790(GTACCGTT;GTACCGTT)
Reference Rs797045790(CAG;CAG)
Significance Pathogenic
Disease Abnormality of cardiovascular system morphology not provided
Variation info
Gene NKX2-5
CLNDBN Abnormality of cardiovascular system morphology not provided
Reversed 1
HGVS NC_000005.9:g.172660067_172660069delCTGinsAACGGTAC
CLNSRC
CLNACC RCV000195107.1, RCV000484660.1,