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rs587779516

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779516(A;A)
Make rs587779516(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992229
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779516
ebirs587779516
HLIrs587779516
Exacrs587779516
Varsomers587779516
Maprs587779516
PheGenIrs587779516
hapmaprs587779516
1000 genomesrs587779516
hgdprs587779516
ensemblrs587779516
gopubmedrs587779516
geneviewrs587779516
scholarrs587779516
googlers587779516
pharmgkbrs587779516
gwascentralrs587779516
openSNPrs587779516
23andMers587779516
23andMe allrs587779516
SNP Nexus

SNPshotrs587779516
SNPdbers587779516
MSV3drs587779516
GWAS Ctlgrs587779516
Max Magnitude0
ClinVar
Risk rs587779516(A;A)
Alt rs587779516(A;A)
Reference rs587779516(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.189856955G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087453.1,