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rs587779594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779594(-;-)
Make rs587779594(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997211
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779594
dbSNP (old)rs587779594
ClinGenrs587779594
ebirs587779594
HLIrs587779594
Exacrs587779594
Varsomers587779594
Maprs587779594
PheGenIrs587779594
Biobankrs587779594
1000 genomesrs587779594
hgdprs587779594
ensemblrs587779594
gopubmedrs587779594
geneviewrs587779594
scholarrs587779594
googlers587779594
pharmgkbrs587779594
gwascentralrs587779594
openSNPrs587779594
23andMers587779594
23andMe allrs587779594
SNP Nexus

SNPshotrs587779594
SNPdbers587779594
MSV3drs587779594
GWAS Ctlgrs587779594
Max Magnitude0
ClinVar
Risk rs587779594(-;-)
Alt rs587779594(-;-)
Reference Rs587779594(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.189861937delG
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087546.1,