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rs587779490

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779490(-;-)
Make rs587779490(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010320
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779490
ebirs587779490
HLIrs587779490
Exacrs587779490
Varsomers587779490
Maprs587779490
PheGenIrs587779490
hapmaprs587779490
1000 genomesrs587779490
hgdprs587779490
ensemblrs587779490
gopubmedrs587779490
geneviewrs587779490
scholarrs587779490
googlers587779490
pharmgkbrs587779490
gwascentralrs587779490
openSNPrs587779490
23andMers587779490
23andMe allrs587779490
SNP Nexus

SNPshotrs587779490
SNPdbers587779490
MSV3drs587779490
GWAS Ctlgrs587779490
Max Magnitude0
ClinVar
Risk rs587779490(;)
Alt rs587779490(;)
Reference rs587779490(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189875046delG
CLNSRC
CLNACC RCV000087423.1,