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rs587779721

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779721(C;C)
Make rs587779721(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994599
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779721
ebirs587779721
HLIrs587779721
Exacrs587779721
Varsomers587779721
Maprs587779721
PheGenIrs587779721
hapmaprs587779721
1000 genomesrs587779721
hgdprs587779721
ensemblrs587779721
gopubmedrs587779721
geneviewrs587779721
scholarrs587779721
googlers587779721
pharmgkbrs587779721
gwascentralrs587779721
openSNPrs587779721
23andMers587779721
23andMe allrs587779721
SNP Nexus

SNPshotrs587779721
SNPdbers587779721
MSV3drs587779721
GWAS Ctlgrs587779721
Max Magnitude0
ClinVar
Risk rs587779721(C;C)
Alt rs587779721(C;C)
Reference rs587779721(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.189859325G>C
CLNSRC
CLNACC RCV000087733.1,