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

rs587779416

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779416(G;T)
Make rs587779416(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005395
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779416
ebirs587779416
HLIrs587779416
Exacrs587779416
Varsomers587779416
Maprs587779416
PheGenIrs587779416
hapmaprs587779416
1000 genomesrs587779416
hgdprs587779416
ensemblrs587779416
gopubmedrs587779416
geneviewrs587779416
scholarrs587779416
googlers587779416
pharmgkbrs587779416
gwascentralrs587779416
openSNPrs587779416
23andMers587779416
23andMe allrs587779416
SNP Nexus

SNPshotrs587779416
SNPdbers587779416
MSV3drs587779416
GWAS Ctlgrs587779416
Max Magnitude0
ClinVar
Risk rs587779416(T;T)
Alt rs587779416(T;T)
Reference rs587779416(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.189870121G>T
CLNSRC
CLNACC RCV000087338.1,