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rs587779543

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779543(A;A)
Make rs587779543(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999533
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779543
ebirs587779543
HLIrs587779543
Exacrs587779543
Varsomers587779543
Maprs587779543
PheGenIrs587779543
hapmaprs587779543
1000 genomesrs587779543
hgdprs587779543
ensemblrs587779543
gopubmedrs587779543
geneviewrs587779543
scholarrs587779543
googlers587779543
pharmgkbrs587779543
gwascentralrs587779543
openSNPrs587779543
23andMers587779543
23andMe allrs587779543
SNP Nexus

SNPshotrs587779543
SNPdbers587779543
MSV3drs587779543
GWAS Ctlgrs587779543
Max Magnitude0
ClinVar
Risk rs587779543(A;A)
Alt rs587779543(A;A)
Reference rs587779543(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.189864259G>A
CLNSRC
CLNACC RCV000087484.1,