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rs587779650

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779650(A;A)
Make rs587779650(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992202
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779650
ebirs587779650
HLIrs587779650
Exacrs587779650
Varsomers587779650
Maprs587779650
PheGenIrs587779650
hapmaprs587779650
1000 genomesrs587779650
hgdprs587779650
ensemblrs587779650
gopubmedrs587779650
geneviewrs587779650
scholarrs587779650
googlers587779650
pharmgkbrs587779650
gwascentralrs587779650
openSNPrs587779650
23andMers587779650
23andMe allrs587779650
SNP Nexus

SNPshotrs587779650
SNPdbers587779650
MSV3drs587779650
GWAS Ctlgrs587779650
Max Magnitude0
ClinVar
Risk rs587779650(A;A)
Alt rs587779650(A;A)
Reference rs587779650(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.189856928G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087626.1,