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rs587779716

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779716(A;A)
Make rs587779716(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004055
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779716
ebirs587779716
HLIrs587779716
Exacrs587779716
Varsomers587779716
Maprs587779716
PheGenIrs587779716
hapmaprs587779716
1000 genomesrs587779716
hgdprs587779716
ensemblrs587779716
gopubmedrs587779716
geneviewrs587779716
scholarrs587779716
googlers587779716
pharmgkbrs587779716
gwascentralrs587779716
openSNPrs587779716
23andMers587779716
23andMe allrs587779716
SNP Nexus

SNPshotrs587779716
SNPdbers587779716
MSV3drs587779716
GWAS Ctlgrs587779716
Max Magnitude0
ClinVar
Risk rs587779716(A;A)
Alt rs587779716(A;A)
Reference rs587779716(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.189868781G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087725.1,