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rs587779517

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779517(A;A)
Make rs587779517(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004258
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779517
ebirs587779517
HLIrs587779517
Exacrs587779517
Varsomers587779517
Maprs587779517
PheGenIrs587779517
hapmaprs587779517
1000 genomesrs587779517
hgdprs587779517
ensemblrs587779517
gopubmedrs587779517
geneviewrs587779517
scholarrs587779517
googlers587779517
pharmgkbrs587779517
gwascentralrs587779517
openSNPrs587779517
23andMers587779517
23andMe allrs587779517
SNP Nexus

SNPshotrs587779517
SNPdbers587779517
MSV3drs587779517
GWAS Ctlgrs587779517
Max Magnitude0
ClinVar
Risk rs587779517(A;A)
Alt rs587779517(A;A)
Reference rs587779517(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.189868984G>A
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087454.1,