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rs587779500

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779500(A;A)
Make rs587779500(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188995065
GeneCOL3A1, MIR3606
is asnp
is mentioned by
dbSNPrs587779500
ebirs587779500
HLIrs587779500
Exacrs587779500
Varsomers587779500
Maprs587779500
PheGenIrs587779500
hapmaprs587779500
1000 genomesrs587779500
hgdprs587779500
ensemblrs587779500
gopubmedrs587779500
geneviewrs587779500
scholarrs587779500
googlers587779500
pharmgkbrs587779500
gwascentralrs587779500
openSNPrs587779500
23andMers587779500
23andMe allrs587779500
SNP Nexus

SNPshotrs587779500
SNPdbers587779500
MSV3drs587779500
GWAS Ctlgrs587779500
Max Magnitude0
ClinVar
Risk rs587779500(A,T;A,T)
Alt rs587779500(A,T;A,T)
Reference rs587779500(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.189859791G>A; NC_000002.11:g.189859791G>T
CLNSRC
CLNACC RCV000087434.1, RCV000087578.1,