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rs587779507

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779507(C;C)
Make rs587779507(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988117
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779507
ebirs587779507
HLIrs587779507
Exacrs587779507
Varsomers587779507
Maprs587779507
PheGenIrs587779507
hapmaprs587779507
1000 genomesrs587779507
hgdprs587779507
ensemblrs587779507
gopubmedrs587779507
geneviewrs587779507
scholarrs587779507
googlers587779507
pharmgkbrs587779507
gwascentralrs587779507
openSNPrs587779507
23andMers587779507
23andMe allrs587779507
SNP Nexus

SNPshotrs587779507
SNPdbers587779507
MSV3drs587779507
GWAS Ctlgrs587779507
Max Magnitude0
ClinVar
Risk rs587779507(C;C)
Alt rs587779507(C;C)
Reference rs587779507(G;G)
Significance Pathogenic
Disease not provided Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN not provided Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189852843G>A; NC_000002.11:g.189852843G>C
CLNSRC
CLNACC RCV000181121.1, RCV000087442.1,