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rs587779559

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779559(A;A)
Make rs587779559(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004348
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779559
ebirs587779559
HLIrs587779559
Exacrs587779559
Varsomers587779559
Maprs587779559
PheGenIrs587779559
hapmaprs587779559
1000 genomesrs587779559
hgdprs587779559
ensemblrs587779559
gopubmedrs587779559
geneviewrs587779559
scholarrs587779559
googlers587779559
pharmgkbrs587779559
gwascentralrs587779559
openSNPrs587779559
23andMers587779559
23andMe allrs587779559
SNP Nexus

SNPshotrs587779559
SNPdbers587779559
MSV3drs587779559
GWAS Ctlgrs587779559
Max Magnitude0
ClinVar
Risk rs587779559(A,C;A,C)
Alt rs587779559(A,C;A,C)
Reference rs587779559(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.189869074G>A; NC_000002.11:g.189869074G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087502.1, RCV000087564.1,