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rs1085307450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Chromosome3
Position171612277
GenePLD1
is asnp
is mentioned by
dbSNPrs1085307450
dbSNP (old)rs1085307450
ClinGenrs1085307450
ebirs1085307450
HLIrs1085307450
Exacrs1085307450
Gnomadrs1085307450
Varsomers1085307450
Maprs1085307450
PheGenIrs1085307450
Biobankrs1085307450
1000 genomesrs1085307450
hgdprs1085307450
ensemblrs1085307450
gopubmedrs1085307450
geneviewrs1085307450
scholarrs1085307450
googlers1085307450
pharmgkbrs1085307450
gwascentralrs1085307450
openSNPrs1085307450
23andMers1085307450
23andMe allrs1085307450
SNPshotrs1085307450
SNPdbers1085307450
MSV3drs1085307450
GWAS Ctlgrs1085307450
Max Magnitude0
ClinVar
Risk rs1085307450(C;C)
Alt rs1085307450(C;C)
Reference Rs1085307450(T;T)
Significance Pathogenic
Disease Cardiac valvular defect
Variation info
Gene PLD1
CLNDBN Cardiac valvular defect, developmental
Reversed 1
HGVS NC_000003.11:g.171330067A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000488913.1,