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rs397509373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509373(A;A)
Make rs397509373(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position189004365
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509373
ebirs397509373
HLIrs397509373
Exacrs397509373
Varsomers397509373
Maprs397509373
PheGenIrs397509373
hapmaprs397509373
1000 genomesrs397509373
hgdprs397509373
ensemblrs397509373
gopubmedrs397509373
geneviewrs397509373
scholarrs397509373
googlers397509373
pharmgkbrs397509373
gwascentralrs397509373
openSNPrs397509373
23andMers397509373
23andMe allrs397509373
SNP Nexus

SNPshotrs397509373
SNPdbers397509373
MSV3drs397509373
GWAS Ctlgrs397509373
Max Magnitude0
ClinVar
Risk rs397509373(A;A)
Alt rs397509373(A;A)
Reference rs397509373(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.189869091G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1 OMIM Allelic Variant
CLNACC RCV000018753.28,