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

rs587779463

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779463(A;A)
Make rs587779463(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990361
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779463
ebirs587779463
HLIrs587779463
Exacrs587779463
Varsomers587779463
Maprs587779463
PheGenIrs587779463
hapmaprs587779463
1000 genomesrs587779463
hgdprs587779463
ensemblrs587779463
gopubmedrs587779463
geneviewrs587779463
scholarrs587779463
googlers587779463
pharmgkbrs587779463
gwascentralrs587779463
openSNPrs587779463
23andMers587779463
23andMe allrs587779463
SNP Nexus

SNPshotrs587779463
SNPdbers587779463
MSV3drs587779463
GWAS Ctlgrs587779463
Max Magnitude0
ClinVar
Risk rs587779463(A;A)
Alt rs587779463(A;A)
Reference rs587779463(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.189855087G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087392.1,