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

rs587779549

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779549(A;A)
Make rs587779549(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999498
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779549
ebirs587779549
HLIrs587779549
Exacrs587779549
Varsomers587779549
Maprs587779549
PheGenIrs587779549
hapmaprs587779549
1000 genomesrs587779549
hgdprs587779549
ensemblrs587779549
gopubmedrs587779549
geneviewrs587779549
scholarrs587779549
googlers587779549
pharmgkbrs587779549
gwascentralrs587779549
openSNPrs587779549
23andMers587779549
23andMe allrs587779549
SNP Nexus

SNPshotrs587779549
SNPdbers587779549
MSV3drs587779549
GWAS Ctlgrs587779549
Max Magnitude0
ClinVar
Risk rs587779549(A;A)
Alt rs587779549(A;A)
Reference rs587779549(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.189864224G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087490.1,