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rs397509371

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509371(G;T)
Make rs397509371(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position189003067
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509371
ebirs397509371
HLIrs397509371
Exacrs397509371
Varsomers397509371
Maprs397509371
PheGenIrs397509371
hapmaprs397509371
1000 genomesrs397509371
hgdprs397509371
ensemblrs397509371
gopubmedrs397509371
geneviewrs397509371
scholarrs397509371
googlers397509371
pharmgkbrs397509371
gwascentralrs397509371
openSNPrs397509371
23andMers397509371
23andMe allrs397509371
SNP Nexus

SNPshotrs397509371
SNPdbers397509371
MSV3drs397509371
GWAS Ctlgrs397509371
Max Magnitude0
ClinVar
Risk rs397509371(T;T)
Alt rs397509371(T;T)
Reference rs397509371(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.189867793G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018746.28,