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rs587779468

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779468(C;C)
Make rs587779468(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990123
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779468
ebirs587779468
HLIrs587779468
Exacrs587779468
Varsomers587779468
Maprs587779468
PheGenIrs587779468
hapmaprs587779468
1000 genomesrs587779468
hgdprs587779468
ensemblrs587779468
gopubmedrs587779468
geneviewrs587779468
scholarrs587779468
googlers587779468
pharmgkbrs587779468
gwascentralrs587779468
openSNPrs587779468
23andMers587779468
23andMe allrs587779468
SNP Nexus

SNPshotrs587779468
SNPdbers587779468
MSV3drs587779468
GWAS Ctlgrs587779468
Max Magnitude0
ClinVar
Risk rs587779468(C;C)
Alt rs587779468(C;C)
Reference rs587779468(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.189854849G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087398.1,