Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779705

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779705(C;C)
Make rs587779705(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990316
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779705
ebirs587779705
HLIrs587779705
Exacrs587779705
Varsomers587779705
Maprs587779705
PheGenIrs587779705
hapmaprs587779705
1000 genomesrs587779705
hgdprs587779705
ensemblrs587779705
gopubmedrs587779705
geneviewrs587779705
scholarrs587779705
googlers587779705
pharmgkbrs587779705
gwascentralrs587779705
openSNPrs587779705
23andMers587779705
23andMe allrs587779705
SNP Nexus

SNPshotrs587779705
SNPdbers587779705
MSV3drs587779705
GWAS Ctlgrs587779705
Max Magnitude0
ClinVar
Risk rs587779705(C;C)
Alt rs587779705(C;C)
Reference rs587779705(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4 Ehlers-Danlos syndrome
Reversed 0
HGVS NC_000002.11:g.189855042G>C; NC_000002.11:g.189855042G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087709.1, RCV000222891.1,