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rs587779506

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779506(A;A)
Make rs587779506(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005458
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779506
ebirs587779506
HLIrs587779506
Exacrs587779506
Varsomers587779506
Maprs587779506
PheGenIrs587779506
hapmaprs587779506
1000 genomesrs587779506
hgdprs587779506
ensemblrs587779506
gopubmedrs587779506
geneviewrs587779506
scholarrs587779506
googlers587779506
pharmgkbrs587779506
gwascentralrs587779506
openSNPrs587779506
23andMers587779506
23andMe allrs587779506
SNP Nexus

SNPshotrs587779506
SNPdbers587779506
MSV3drs587779506
GWAS Ctlgrs587779506
Max Magnitude0
ClinVar
Risk rs587779506(A;A)
Alt rs587779506(A;A)
Reference rs587779506(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.189870184G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087441.1,