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rs587779723

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779723(A;A)
Make rs587779723(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004347
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779723
ebirs587779723
HLIrs587779723
Exacrs587779723
Varsomers587779723
Maprs587779723
PheGenIrs587779723
hapmaprs587779723
1000 genomesrs587779723
hgdprs587779723
ensemblrs587779723
gopubmedrs587779723
geneviewrs587779723
scholarrs587779723
googlers587779723
pharmgkbrs587779723
gwascentralrs587779723
openSNPrs587779723
23andMers587779723
23andMe allrs587779723
SNP Nexus

SNPshotrs587779723
SNPdbers587779723
MSV3drs587779723
GWAS Ctlgrs587779723
Max Magnitude0
ClinVar
Risk rs587779723(A;A)
Alt rs587779723(A;A)
Reference rs587779723(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.189869073G>A
CLNSRC
CLNACC RCV000087735.1,