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rs587779421

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779421(A;A)
Make rs587779421(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997746
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779421
ebirs587779421
HLIrs587779421
Exacrs587779421
Varsomers587779421
Maprs587779421
PheGenIrs587779421
hapmaprs587779421
1000 genomesrs587779421
hgdprs587779421
ensemblrs587779421
gopubmedrs587779421
geneviewrs587779421
scholarrs587779421
googlers587779421
pharmgkbrs587779421
gwascentralrs587779421
openSNPrs587779421
23andMers587779421
23andMe allrs587779421
SNP Nexus

SNPshotrs587779421
SNPdbers587779421
MSV3drs587779421
GWAS Ctlgrs587779421
Max Magnitude0
ClinVar
Risk rs587779421(A;A)
Alt rs587779421(A;A)
Reference rs587779421(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.189862472G>A
CLNSRC
CLNACC RCV000087344.1,