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rs587779508

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779508(C;C)
Make rs587779508(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188988135
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779508
ebirs587779508
HLIrs587779508
Exacrs587779508
Varsomers587779508
Maprs587779508
PheGenIrs587779508
hapmaprs587779508
1000 genomesrs587779508
hgdprs587779508
ensemblrs587779508
gopubmedrs587779508
geneviewrs587779508
scholarrs587779508
googlers587779508
pharmgkbrs587779508
gwascentralrs587779508
openSNPrs587779508
23andMers587779508
23andMe allrs587779508
SNP Nexus

SNPshotrs587779508
SNPdbers587779508
MSV3drs587779508
GWAS Ctlgrs587779508
Max Magnitude0
ClinVar
Risk rs587779508(C;C)
Alt rs587779508(C;C)
Reference rs587779508(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.189852861G>C
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087443.1,