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rs203462

From SNPedia

Orientationminus
Stabilizedminus
Make rs203462(A;A)
Make rs203462(A;G)
Make rs203462(G;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position19909228
GeneAKAP10
is asnp
is mentioned by
dbSNPrs203462
dbSNP (old)rs203462
ClinGenrs203462
ebirs203462
HLIrs203462
Exacrs203462
Varsomers203462
Maprs203462
PheGenIrs203462
Biobankrs203462
1000 genomesrs203462
hgdprs203462
ensemblrs203462
gopubmedrs203462
geneviewrs203462
scholarrs203462
googlers203462
pharmgkbrs203462
gwascentralrs203462
openSNPrs203462
23andMers203462
23andMe allrs203462
SNP Nexus

SNPshotrs203462
SNPdbers203462
MSV3drs203462
GWAS Ctlgrs203462
GMAF0.3953
Max Magnitude
? (A;A) (A;G) (G;G) 28

Linked to breast cancer

OMIM604694
DescLONGEVITY, REDUCED
Variant0001
Relatedalso
[PMID 19857670] Association of the A1936G (rs203462) of A-Kinase Anchoring Protein 10 Polymorphisms With QT Interval Prolongation During Kidney Transplantation


ClinVar
Risk rs203462(G;G)
Alt rs203462(G;G)
Reference rs203462(A;A)
Significance Other
Disease Cardiac conduction defect
Variation info
Gene AKAP10
CLNDBN Cardiac conduction defect, susceptibility to
Reversed 1
HGVS NC_000017.10:g.19812541T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005735.2,



GET Evidence
AKAP10-I646V
aa_change Ile646Val
aa_change_short I646V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.452036
summary Susceptibility to cardiac conduction defect



[PMID 23092224] 1936A→G (I646 V) Polymorphism in the AKAP10 Gene Encoding A-Kinase-Anchoring Protein 10 in Very Long-Lived Poles is Similar to that in Newborns