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rs606231358

From SNPedia

Orientationminus
Geno Mag Summary
(AGCTGGG;AGCTGGG) 0 common in clinvar
Make rs606231358(-;-)
Make rs606231358(-;AGCTGGG)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position173234863
GeneNKX2-5
is asnp
is mentioned by
dbSNPrs606231358
ebirs606231358
HLIrs606231358
Exacrs606231358
Varsomers606231358
Maprs606231358
PheGenIrs606231358
hapmaprs606231358
1000 genomesrs606231358
hgdprs606231358
ensemblrs606231358
gopubmedrs606231358
geneviewrs606231358
scholarrs606231358
googlers606231358
pharmgkbrs606231358
gwascentralrs606231358
openSNPrs606231358
23andMers606231358
23andMe allrs606231358
SNP Nexus

SNPshotrs606231358
SNPdbers606231358
MSV3drs606231358
GWAS Ctlgrs606231358
Max Magnitude0
ClinVar
Risk rs606231358(;)
Alt rs606231358(;)
Reference rs606231358(AGCTGGG;AGCTGGG)
Significance Pathogenic
Disease Atrial septal defect 7 with or without atrioventricular conduction defects
Variation info
Gene NKX2-5
CLNDBN Atrial septal defect 7 with or without atrioventricular conduction defects
Reversed 1
HGVS NC_000005.9:g.172661866_172661872delCCCAGCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000009577.3,