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rs587779665

From SNPedia

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


Make rs587779665(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188994786
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779665
dbSNP (classic)rs587779665
ClinGenrs587779665
ebirs587779665
HLIrs587779665
Exacrs587779665
Gnomadrs587779665
Varsomers587779665
LitVarrs587779665
Maprs587779665
PheGenIrs587779665
Biobankrs587779665
1000 genomesrs587779665
hgdprs587779665
ensemblrs587779665
geneviewrs587779665
scholarrs587779665
googlers587779665
pharmgkbrs587779665
gwascentralrs587779665
openSNPrs587779665
23andMers587779665
SNPshotrs587779665
SNPdbers587779665
MSV3drs587779665
GWAS Ctlgrs587779665
Max Magnitude6.5
ClinVar
Risk rs587779665(-;-)
Alt rs587779665(-;-)
Reference Rs587779665(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189859512delT
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087652.1,