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rs587779554

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779554(A;A)
Make rs587779554(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006955
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779554
ebirs587779554
HLIrs587779554
Exacrs587779554
Varsomers587779554
Maprs587779554
PheGenIrs587779554
hapmaprs587779554
1000 genomesrs587779554
hgdprs587779554
ensemblrs587779554
gopubmedrs587779554
geneviewrs587779554
scholarrs587779554
googlers587779554
pharmgkbrs587779554
gwascentralrs587779554
openSNPrs587779554
23andMers587779554
23andMe allrs587779554
SNP Nexus

SNPshotrs587779554
SNPdbers587779554
MSV3drs587779554
GWAS Ctlgrs587779554
Max Magnitude0
ClinVar
Risk rs587779554(A;A)
Alt rs587779554(A;A)
Reference rs587779554(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.189871681G>A
CLNSRC
CLNACC RCV000087495.1,