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rs587779674

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779674(A;A)
Make rs587779674(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004293
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779674
ebirs587779674
HLIrs587779674
Exacrs587779674
Varsomers587779674
Maprs587779674
PheGenIrs587779674
hapmaprs587779674
1000 genomesrs587779674
hgdprs587779674
ensemblrs587779674
gopubmedrs587779674
geneviewrs587779674
scholarrs587779674
googlers587779674
pharmgkbrs587779674
gwascentralrs587779674
openSNPrs587779674
23andMers587779674
23andMe allrs587779674
SNP Nexus

SNPshotrs587779674
SNPdbers587779674
MSV3drs587779674
GWAS Ctlgrs587779674
Max Magnitude0
ClinVar
Risk rs587779674(A;A)
Alt rs587779674(A;A)
Reference rs587779674(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.189869019G>A
CLNSRC
CLNACC RCV000087669.1,