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rs587779537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
Make rs587779537(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188996180
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779537
dbSNP (classic)rs587779537
ClinGenrs587779537
ebirs587779537
HLIrs587779537
Exacrs587779537
Gnomadrs587779537
Varsomers587779537
LitVarrs587779537
Maprs587779537
PheGenIrs587779537
Biobankrs587779537
1000 genomesrs587779537
hgdprs587779537
ensemblrs587779537
geneviewrs587779537
scholarrs587779537
googlers587779537
pharmgkbrs587779537
gwascentralrs587779537
openSNPrs587779537
23andMers587779537
SNPshotrs587779537
SNPdbers587779537
MSV3drs587779537
GWAS Ctlgrs587779537
Max Magnitude6.5
ClinVar
Risk rs587779537(T;T)
Alt rs587779537(T;T)
Reference Rs587779537(-;-)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1 MIR3606
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189860906dupT
CLNSRC
CLNACC RCV000087477.1,