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

rs587779685

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779685(A;A)
Make rs587779685(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999569
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779685
ebirs587779685
HLIrs587779685
Exacrs587779685
Varsomers587779685
Maprs587779685
PheGenIrs587779685
hapmaprs587779685
1000 genomesrs587779685
hgdprs587779685
ensemblrs587779685
gopubmedrs587779685
geneviewrs587779685
scholarrs587779685
googlers587779685
pharmgkbrs587779685
gwascentralrs587779685
openSNPrs587779685
23andMers587779685
23andMe allrs587779685
SNP Nexus

SNPshotrs587779685
SNPdbers587779685
MSV3drs587779685
GWAS Ctlgrs587779685
Max Magnitude0
ClinVar
Risk rs587779685(A;A)
Alt rs587779685(A;A)
Reference rs587779685(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.189864295G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087682.1,