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rs397509372

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509372(G;T)
Make rs397509372(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position188996501
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509372
ebirs397509372
HLIrs397509372
Exacrs397509372
Varsomers397509372
Maprs397509372
PheGenIrs397509372
hapmaprs397509372
1000 genomesrs397509372
hgdprs397509372
ensemblrs397509372
gopubmedrs397509372
geneviewrs397509372
scholarrs397509372
googlers397509372
pharmgkbrs397509372
gwascentralrs397509372
openSNPrs397509372
23andMers397509372
23andMe allrs397509372
SNP Nexus

SNPshotrs397509372
SNPdbers397509372
MSV3drs397509372
GWAS Ctlgrs397509372
Max Magnitude0
ClinVar
Risk rs397509372(A,T;A,T)
Alt rs397509372(A,T;A,T)
Reference rs397509372(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.189861227G>A; NC_000002.11:g.189861227G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087446.1, RCV000018752.28,