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rs587779568

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779568(A;A)
Make rs587779568(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005462
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779568
ebirs587779568
HLIrs587779568
Exacrs587779568
Varsomers587779568
Maprs587779568
PheGenIrs587779568
hapmaprs587779568
1000 genomesrs587779568
hgdprs587779568
ensemblrs587779568
gopubmedrs587779568
geneviewrs587779568
scholarrs587779568
googlers587779568
pharmgkbrs587779568
gwascentralrs587779568
openSNPrs587779568
23andMers587779568
23andMe allrs587779568
SNP Nexus

SNPshotrs587779568
SNPdbers587779568
MSV3drs587779568
GWAS Ctlgrs587779568
Max Magnitude0
ClinVar
Risk rs587779568(A;A)
Alt rs587779568(A;A)
Reference rs587779568(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.189870188G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087517.1,