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rs587779629

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779629(G;T)
Make rs587779629(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188990133
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779629
ebirs587779629
HLIrs587779629
Exacrs587779629
Varsomers587779629
Maprs587779629
PheGenIrs587779629
hapmaprs587779629
1000 genomesrs587779629
hgdprs587779629
ensemblrs587779629
gopubmedrs587779629
geneviewrs587779629
scholarrs587779629
googlers587779629
pharmgkbrs587779629
gwascentralrs587779629
openSNPrs587779629
23andMers587779629
23andMe allrs587779629
SNP Nexus

SNPshotrs587779629
SNPdbers587779629
MSV3drs587779629
GWAS Ctlgrs587779629
Max Magnitude0
ClinVar
Risk rs587779629(A,T;A,T)
Alt rs587779629(A,T;A,T)
Reference rs587779629(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.189854859G>A; NC_000002.11:g.189854859G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087666.1, RCV000087594.1,