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rs587779552

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779552(A;A)
Make rs587779552(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005450
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779552
ebirs587779552
HLIrs587779552
Exacrs587779552
Varsomers587779552
Maprs587779552
PheGenIrs587779552
hapmaprs587779552
1000 genomesrs587779552
hgdprs587779552
ensemblrs587779552
gopubmedrs587779552
geneviewrs587779552
scholarrs587779552
googlers587779552
pharmgkbrs587779552
gwascentralrs587779552
openSNPrs587779552
23andMers587779552
23andMe allrs587779552
SNP Nexus

SNPshotrs587779552
SNPdbers587779552
MSV3drs587779552
GWAS Ctlgrs587779552
Max Magnitude0
ClinVar
Risk rs587779552(A;A)
Alt rs587779552(A;A)
Reference rs587779552(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.189870176G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087493.1,