Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779633

From SNPedia

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


Make rs587779633(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994760
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779633
dbSNP (classic)rs587779633
ClinGenrs587779633
ebirs587779633
HLIrs587779633
Exacrs587779633
Gnomadrs587779633
Varsomers587779633
LitVarrs587779633
Maprs587779633
PheGenIrs587779633
Biobankrs587779633
1000 genomesrs587779633
hgdprs587779633
ensemblrs587779633
geneviewrs587779633
scholarrs587779633
googlers587779633
pharmgkbrs587779633
gwascentralrs587779633
openSNPrs587779633
23andMers587779633
SNPshotrs587779633
SNPdbers587779633
MSV3drs587779633
GWAS Ctlgrs587779633
Max Magnitude6.5
ClinVar
Risk rs587779633(A;A)
Alt rs587779633(A;A)
Reference Rs587779633(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.189859486G>A
CLNSRC
CLNACC RCV000087603.1,