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rs587779694

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779694(C;C)
Make rs587779694(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189001397
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779694
ebirs587779694
HLIrs587779694
Exacrs587779694
Varsomers587779694
Maprs587779694
PheGenIrs587779694
hapmaprs587779694
1000 genomesrs587779694
hgdprs587779694
ensemblrs587779694
gopubmedrs587779694
geneviewrs587779694
scholarrs587779694
googlers587779694
pharmgkbrs587779694
gwascentralrs587779694
openSNPrs587779694
23andMers587779694
23andMe allrs587779694
SNP Nexus

SNPshotrs587779694
SNPdbers587779694
MSV3drs587779694
GWAS Ctlgrs587779694
Max Magnitude0
ClinVar
Risk rs587779694(C;C)
Alt rs587779694(C;C)
Reference rs587779694(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.189866123G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087692.1,