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rs193922176

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922176(C;C)
Make rs193922176(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188996426
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs193922176
ebirs193922176
HLIrs193922176
Exacrs193922176
Varsomers193922176
Maprs193922176
PheGenIrs193922176
hapmaprs193922176
1000 genomesrs193922176
hgdprs193922176
ensemblrs193922176
gopubmedrs193922176
geneviewrs193922176
scholarrs193922176
googlers193922176
pharmgkbrs193922176
gwascentralrs193922176
openSNPrs193922176
23andMers193922176
23andMe allrs193922176
SNP Nexus

SNPshotrs193922176
SNPdbers193922176
MSV3drs193922176
GWAS Ctlgrs193922176
Max Magnitude0
ClinVar
Risk rs193922176(C;C)
Alt rs193922176(C;C)
Reference rs193922176(G;G)
Significance Probable-Pathogenic
Disease Familial aortopathy
Variation info
Gene COL3A1
CLNDBN Familial aortopathy
Reversed 0
HGVS NC_000002.11:g.189861152G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029618.1,