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rs587779434

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779434(A;A)
Make rs587779434(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004294
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779434
ebirs587779434
HLIrs587779434
Exacrs587779434
Varsomers587779434
Maprs587779434
PheGenIrs587779434
hapmaprs587779434
1000 genomesrs587779434
hgdprs587779434
ensemblrs587779434
gopubmedrs587779434
geneviewrs587779434
scholarrs587779434
googlers587779434
pharmgkbrs587779434
gwascentralrs587779434
openSNPrs587779434
23andMers587779434
23andMe allrs587779434
SNP Nexus

SNPshotrs587779434
SNPdbers587779434
MSV3drs587779434
GWAS Ctlgrs587779434
Max Magnitude0
ClinVar
Risk rs587779434(A;A)
Alt rs587779434(A;A)
Reference rs587779434(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.189869020G>A
CLNSRC
CLNACC RCV000087358.1,