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

rs587779447

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779447(A;A)
Make rs587779447(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004275
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779447
ebirs587779447
HLIrs587779447
Exacrs587779447
Varsomers587779447
Maprs587779447
PheGenIrs587779447
hapmaprs587779447
1000 genomesrs587779447
hgdprs587779447
ensemblrs587779447
gopubmedrs587779447
geneviewrs587779447
scholarrs587779447
googlers587779447
pharmgkbrs587779447
gwascentralrs587779447
openSNPrs587779447
23andMers587779447
23andMe allrs587779447
SNP Nexus

SNPshotrs587779447
SNPdbers587779447
MSV3drs587779447
GWAS Ctlgrs587779447
Max Magnitude0
ClinVar
Risk rs587779447(A;A)
Alt rs587779447(A;A)
Reference rs587779447(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.189869001G>A
CLNSRC
CLNACC RCV000087373.1,