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rs587779583

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779583(A;A)
Make rs587779583(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189005377
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779583
ebirs587779583
HLIrs587779583
Exacrs587779583
Varsomers587779583
Maprs587779583
PheGenIrs587779583
hapmaprs587779583
1000 genomesrs587779583
hgdprs587779583
ensemblrs587779583
gopubmedrs587779583
geneviewrs587779583
scholarrs587779583
googlers587779583
pharmgkbrs587779583
gwascentralrs587779583
openSNPrs587779583
23andMers587779583
23andMe allrs587779583
SNP Nexus

SNPshotrs587779583
SNPdbers587779583
MSV3drs587779583
GWAS Ctlgrs587779583
Max Magnitude0
ClinVar
Risk rs587779583(A;A)
Alt rs587779583(A;A)
Reference rs587779583(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.189870103G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087534.1,