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rs587779689

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779689(A;A)
Make rs587779689(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189002308
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779689
ebirs587779689
HLIrs587779689
Exacrs587779689
Varsomers587779689
Maprs587779689
PheGenIrs587779689
hapmaprs587779689
1000 genomesrs587779689
hgdprs587779689
ensemblrs587779689
gopubmedrs587779689
geneviewrs587779689
scholarrs587779689
googlers587779689
pharmgkbrs587779689
gwascentralrs587779689
openSNPrs587779689
23andMers587779689
23andMe allrs587779689
SNP Nexus

SNPshotrs587779689
SNPdbers587779689
MSV3drs587779689
GWAS Ctlgrs587779689
Max Magnitude0
ClinVar
Risk rs587779689(A;A)
Alt rs587779689(A;A)
Reference rs587779689(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.189867034G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087687.1,