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rs587779688

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779688(A;A)
Make rs587779688(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988648
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779688
ebirs587779688
HLIrs587779688
Exacrs587779688
Varsomers587779688
Maprs587779688
PheGenIrs587779688
hapmaprs587779688
1000 genomesrs587779688
hgdprs587779688
ensemblrs587779688
gopubmedrs587779688
geneviewrs587779688
scholarrs587779688
googlers587779688
pharmgkbrs587779688
gwascentralrs587779688
openSNPrs587779688
23andMers587779688
23andMe allrs587779688
SNP Nexus

SNPshotrs587779688
SNPdbers587779688
MSV3drs587779688
GWAS Ctlgrs587779688
Max Magnitude0
ClinVar
Risk rs587779688(A;A)
Alt rs587779688(A;A)
Reference rs587779688(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.189853374G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087686.1,