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rs587779586

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
(G;G) 0 common in clinvar


Make rs587779586(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994307
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779586
dbSNP (classic)rs587779586
ClinGenrs587779586
ebirs587779586
HLIrs587779586
Exacrs587779586
Gnomadrs587779586
Varsomers587779586
LitVarrs587779586
Maprs587779586
PheGenIrs587779586
Biobankrs587779586
1000 genomesrs587779586
hgdprs587779586
ensemblrs587779586
geneviewrs587779586
scholarrs587779586
googlers587779586
pharmgkbrs587779586
gwascentralrs587779586
openSNPrs587779586
23andMers587779586
SNPshotrs587779586
SNPdbers587779586
MSV3drs587779586
GWAS Ctlgrs587779586
Max Magnitude6.5
ClinVar
Risk rs587779586(A;A)
Alt rs587779586(A;A)
Reference Rs587779586(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not provided
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4 not provided
Reversed 0
HGVS NC_000002.11:g.189859033G>A
CLNSRC
CLNACC RCV000087537.1, RCV000423138.1,