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rs1060502531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCATA;GCATA) 0 common in clinvar
Make rs1060502531(-;-)
Make rs1060502531(-;GCATA)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position123647350
GeneMYLK
is asnp
is mentioned by
dbSNPrs1060502531
dbSNP (old)rs1060502531
ClinGenrs1060502531
ebirs1060502531
HLIrs1060502531
Exacrs1060502531
Gnomadrs1060502531
Varsomers1060502531
LitVarrs1060502531
Maprs1060502531
PheGenIrs1060502531
Biobankrs1060502531
1000 genomesrs1060502531
hgdprs1060502531
ensemblrs1060502531
gopubmedrs1060502531
geneviewrs1060502531
scholarrs1060502531
googlers1060502531
pharmgkbrs1060502531
gwascentralrs1060502531
openSNPrs1060502531
23andMers1060502531
23andMe allrs1060502531
SNPshotrs1060502531
SNPdbers1060502531
MSV3drs1060502531
GWAS Ctlgrs1060502531
Max Magnitude0
ClinVar
Risk rs1060502531(-;-)
Alt rs1060502531(-;-)
Reference Rs1060502531(GCATA;GCATA)
Significance Probable-Pathogenic
Disease Aortic aneurysm
Variation info
Gene MYLK
CLNDBN Aortic aneurysm, familial thoracic 7
Reversed 1
HGVS NC_000003.11:g.123366197_123366201delTATGC
CLNSRC
CLNACC RCV000462848.1,