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rs397509369

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509369(A;A)
Make rs397509369(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189002343
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509369
ebirs397509369
HLIrs397509369
Exacrs397509369
Varsomers397509369
Maprs397509369
PheGenIrs397509369
hapmaprs397509369
1000 genomesrs397509369
hgdprs397509369
ensemblrs397509369
gopubmedrs397509369
geneviewrs397509369
scholarrs397509369
googlers397509369
pharmgkbrs397509369
gwascentralrs397509369
openSNPrs397509369
23andMers397509369
23andMe allrs397509369
SNP Nexus

SNPshotrs397509369
SNPdbers397509369
MSV3drs397509369
GWAS Ctlgrs397509369
Max Magnitude0
ClinVar
Risk rs397509369(A;A)
Alt rs397509369(A;A)
Reference rs397509369(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189867069G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018739.23,