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rs1057518938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518938(C;C)
Make rs1057518938(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position15724166
GeneMYH11, NDE1
is asnp
is mentioned by
dbSNPrs1057518938
dbSNP (old)rs1057518938
ClinGenrs1057518938
ebirs1057518938
HLIrs1057518938
Exacrs1057518938
Gnomadrs1057518938
Varsomers1057518938
LitVarrs1057518938
Maprs1057518938
PheGenIrs1057518938
Biobankrs1057518938
1000 genomesrs1057518938
hgdprs1057518938
ensemblrs1057518938
gopubmedrs1057518938
geneviewrs1057518938
scholarrs1057518938
googlers1057518938
pharmgkbrs1057518938
gwascentralrs1057518938
openSNPrs1057518938
23andMers1057518938
23andMe allrs1057518938
SNPshotrs1057518938
SNPdbers1057518938
MSV3drs1057518938
GWAS Ctlgrs1057518938
Max Magnitude0
ClinVar
Risk rs1057518938(C;C)
Alt rs1057518938(C;C)
Reference Rs1057518938(G;G)
Significance Probable-Pathogenic
Disease Abnormality of the left ventricle Aortic root dilatation Mitral regurgitation Myopia Tricuspid regurgitation
Variation info
Gene NDE1 MYH11
CLNDBN Abnormality of the left ventricle Aortic root dilatation Mitral regurgitation Myopia Tricuspid regurgitation
Reversed 1
HGVS NC_000016.9:g.15818023C>G
CLNSRC
CLNACC RCV000414859.1,