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rs587779485

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779485(G;T)
Make rs587779485(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994279
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779485
ebirs587779485
HLIrs587779485
Exacrs587779485
Varsomers587779485
Maprs587779485
PheGenIrs587779485
hapmaprs587779485
1000 genomesrs587779485
hgdprs587779485
ensemblrs587779485
gopubmedrs587779485
geneviewrs587779485
scholarrs587779485
googlers587779485
pharmgkbrs587779485
gwascentralrs587779485
openSNPrs587779485
23andMers587779485
23andMe allrs587779485
SNP Nexus

SNPshotrs587779485
SNPdbers587779485
MSV3drs587779485
GWAS Ctlgrs587779485
Max Magnitude0
ClinVar
Risk rs587779485(T;T)
Alt rs587779485(T;T)
Reference rs587779485(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.189859005G>T
CLNSRC
CLNACC RCV000087417.1,