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rs267606914

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606914(C;C)
Make rs267606914(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position23702906
GeneLOC107986930, NKX2-6
is asnp
is mentioned by
dbSNPrs267606914
dbSNP (classic)rs267606914
ClinGenrs267606914
ebirs267606914
HLIrs267606914
Exacrs267606914
Gnomadrs267606914
Varsomers267606914
LitVarrs267606914
Maprs267606914
PheGenIrs267606914
Biobankrs267606914
1000 genomesrs267606914
hgdprs267606914
ensemblrs267606914
geneviewrs267606914
scholarrs267606914
googlers267606914
pharmgkbrs267606914
gwascentralrs267606914
openSNPrs267606914
23andMers267606914
SNPshotrs267606914
SNPdbers267606914
MSV3drs267606914
GWAS Ctlgrs267606914
Max Magnitude0
ClinVar
Risk rs267606914(C;C)
Alt rs267606914(C;C)
Reference Rs267606914(T;T)
Significance Pathogenic
Disease Persistent truncus arteriosus
Variation info
Gene NKX2-6
CLNDBN Persistent truncus arteriosus
Reversed 1
HGVS NC_000008.10:g.23560419A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000827.3,