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rs587779514

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779514(-;-)
Make rs587779514(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003063
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779514
ebirs587779514
HLIrs587779514
Exacrs587779514
Varsomers587779514
Maprs587779514
PheGenIrs587779514
hapmaprs587779514
1000 genomesrs587779514
hgdprs587779514
ensemblrs587779514
gopubmedrs587779514
geneviewrs587779514
scholarrs587779514
googlers587779514
pharmgkbrs587779514
gwascentralrs587779514
openSNPrs587779514
23andMers587779514
23andMe allrs587779514
SNP Nexus

SNPshotrs587779514
SNPdbers587779514
MSV3drs587779514
GWAS Ctlgrs587779514
Max Magnitude0
ClinVar
Risk rs587779514(;)
Alt rs587779514(;)
Reference rs587779514(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.189867789delG
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087451.1,