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rs587779565

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779565(A;A)
Make rs587779565(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189010890
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779565
ebirs587779565
HLIrs587779565
Exacrs587779565
Varsomers587779565
Maprs587779565
PheGenIrs587779565
hapmaprs587779565
1000 genomesrs587779565
hgdprs587779565
ensemblrs587779565
gopubmedrs587779565
geneviewrs587779565
scholarrs587779565
googlers587779565
pharmgkbrs587779565
gwascentralrs587779565
openSNPrs587779565
23andMers587779565
23andMe allrs587779565
SNP Nexus

SNPshotrs587779565
SNPdbers587779565
MSV3drs587779565
GWAS Ctlgrs587779565
Max Magnitude0
ClinVar
Risk rs587779565(A;A)
Alt rs587779565(A;A)
Reference rs587779565(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.189875616G>A
CLNSRC
CLNACC RCV000087514.1,