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rs397509376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397509376(A;A)
Make rs397509376(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position188997394
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs397509376
ebirs397509376
HLIrs397509376
Exacrs397509376
Varsomers397509376
Maprs397509376
PheGenIrs397509376
hapmaprs397509376
1000 genomesrs397509376
hgdprs397509376
ensemblrs397509376
gopubmedrs397509376
geneviewrs397509376
scholarrs397509376
googlers397509376
pharmgkbrs397509376
gwascentralrs397509376
openSNPrs397509376
23andMers397509376
23andMe allrs397509376
SNP Nexus

SNPshotrs397509376
SNPdbers397509376
MSV3drs397509376
GWAS Ctlgrs397509376
Max Magnitude0
ClinVar
Risk rs397509376(A,T;A,T)
Alt rs397509376(A,T;A,T)
Reference rs397509376(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.189862120G>A; NC_000002.11:g.189862120G>T
CLNSRC OMIM Allelic Variant Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000018762.28, RCV000087724.1,