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rs587779419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779419(A;A)
Make rs587779419(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992923
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779419
dbSNP (old)rs587779419
ClinGenrs587779419
ebirs587779419
HLIrs587779419
Exacrs587779419
Varsomers587779419
Maprs587779419
PheGenIrs587779419
Biobankrs587779419
1000 genomesrs587779419
hgdprs587779419
ensemblrs587779419
gopubmedrs587779419
geneviewrs587779419
scholarrs587779419
googlers587779419
pharmgkbrs587779419
gwascentralrs587779419
openSNPrs587779419
23andMers587779419
23andMe allrs587779419
SNP Nexus

SNPshotrs587779419
SNPdbers587779419
MSV3drs587779419
GWAS Ctlgrs587779419
Max Magnitude0
ClinVar
Risk rs587779419(A;A)
Alt rs587779419(A;A)
Reference Rs587779419(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.189857649G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000087341.1,