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

rs587779592

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779592(G;T)
Make rs587779592(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988627
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779592
ebirs587779592
HLIrs587779592
Exacrs587779592
Varsomers587779592
Maprs587779592
PheGenIrs587779592
hapmaprs587779592
1000 genomesrs587779592
hgdprs587779592
ensemblrs587779592
gopubmedrs587779592
geneviewrs587779592
scholarrs587779592
googlers587779592
pharmgkbrs587779592
gwascentralrs587779592
openSNPrs587779592
23andMers587779592
23andMe allrs587779592
SNP Nexus

SNPshotrs587779592
SNPdbers587779592
MSV3drs587779592
GWAS Ctlgrs587779592
Max Magnitude0
ClinVar
Risk rs587779592(T;T)
Alt rs587779592(T;T)
Reference rs587779592(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.189853353G>T
CLNSRC
CLNACC RCV000087544.1,