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

rs587779472

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779472(A;A)
Make rs587779472(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008090
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779472
ebirs587779472
HLIrs587779472
Exacrs587779472
Varsomers587779472
Maprs587779472
PheGenIrs587779472
hapmaprs587779472
1000 genomesrs587779472
hgdprs587779472
ensemblrs587779472
gopubmedrs587779472
geneviewrs587779472
scholarrs587779472
googlers587779472
pharmgkbrs587779472
gwascentralrs587779472
openSNPrs587779472
23andMers587779472
23andMe allrs587779472
SNP Nexus

SNPshotrs587779472
SNPdbers587779472
MSV3drs587779472
GWAS Ctlgrs587779472
Max Magnitude0
ClinVar
Risk rs587779472(A;A)
Alt rs587779472(A;A)
Reference rs587779472(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.189872816G>A
CLNSRC
CLNACC RCV000087403.1,