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rs587779482

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779482(A;A)
Make rs587779482(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008125
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779482
ebirs587779482
HLIrs587779482
Exacrs587779482
Varsomers587779482
Maprs587779482
PheGenIrs587779482
hapmaprs587779482
1000 genomesrs587779482
hgdprs587779482
ensemblrs587779482
gopubmedrs587779482
geneviewrs587779482
scholarrs587779482
googlers587779482
pharmgkbrs587779482
gwascentralrs587779482
openSNPrs587779482
23andMers587779482
23andMe allrs587779482
SNP Nexus

SNPshotrs587779482
SNPdbers587779482
MSV3drs587779482
GWAS Ctlgrs587779482
Max Magnitude0
ClinVar
Risk rs587779482(A;A)
Alt rs587779482(A;A)
Reference rs587779482(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.189872851G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087414.1,