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rs587779611

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779611(A;A)
Make rs587779611(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997728
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779611
ebirs587779611
HLIrs587779611
Exacrs587779611
Varsomers587779611
Maprs587779611
PheGenIrs587779611
hapmaprs587779611
1000 genomesrs587779611
hgdprs587779611
ensemblrs587779611
gopubmedrs587779611
geneviewrs587779611
scholarrs587779611
googlers587779611
pharmgkbrs587779611
gwascentralrs587779611
openSNPrs587779611
23andMers587779611
23andMe allrs587779611
SNP Nexus

SNPshotrs587779611
SNPdbers587779611
MSV3drs587779611
GWAS Ctlgrs587779611
Max Magnitude0
ClinVar
Risk rs587779611(A;A)
Alt rs587779611(A;A)
Reference rs587779611(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.189862454G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087569.1,