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

rs587779722

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587779722(A;G)
Make rs587779722(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997163
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779722
ebirs587779722
HLIrs587779722
Exacrs587779722
Varsomers587779722
Maprs587779722
PheGenIrs587779722
hapmaprs587779722
1000 genomesrs587779722
hgdprs587779722
ensemblrs587779722
gopubmedrs587779722
geneviewrs587779722
scholarrs587779722
googlers587779722
pharmgkbrs587779722
gwascentralrs587779722
openSNPrs587779722
23andMers587779722
23andMe allrs587779722
SNP Nexus

SNPshotrs587779722
SNPdbers587779722
MSV3drs587779722
GWAS Ctlgrs587779722
Max Magnitude0
ClinVar
Risk rs587779722(G;G)
Alt rs587779722(G;G)
Reference rs587779722(A;A)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189861889A>G
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087734.1,