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rs587779459

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779459(C;C)
Make rs587779459(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994083
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779459
ebirs587779459
HLIrs587779459
Exacrs587779459
Varsomers587779459
Maprs587779459
PheGenIrs587779459
hapmaprs587779459
1000 genomesrs587779459
hgdprs587779459
ensemblrs587779459
gopubmedrs587779459
geneviewrs587779459
scholarrs587779459
googlers587779459
pharmgkbrs587779459
gwascentralrs587779459
openSNPrs587779459
23andMers587779459
23andMe allrs587779459
SNP Nexus

SNPshotrs587779459
SNPdbers587779459
MSV3drs587779459
GWAS Ctlgrs587779459
Max Magnitude0
ClinVar
Risk rs587779459(A,C;A,C)
Alt rs587779459(A,C;A,C)
Reference rs587779459(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189858809G>A; NC_000002.11:g.189858809G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087531.1, RCV000087388.1,