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rs587779588

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779588(G;T)
Make rs587779588(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992194
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779588
ebirs587779588
HLIrs587779588
Exacrs587779588
Varsomers587779588
Maprs587779588
PheGenIrs587779588
hapmaprs587779588
1000 genomesrs587779588
hgdprs587779588
ensemblrs587779588
gopubmedrs587779588
geneviewrs587779588
scholarrs587779588
googlers587779588
pharmgkbrs587779588
gwascentralrs587779588
openSNPrs587779588
23andMers587779588
23andMe allrs587779588
SNP Nexus

SNPshotrs587779588
SNPdbers587779588
MSV3drs587779588
GWAS Ctlgrs587779588
Max Magnitude0
ClinVar
Risk rs587779588(A,T;A,T)
Alt rs587779588(A,T;A,T)
Reference rs587779588(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.189856920G>A; NC_000002.11:g.189856920G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087628.1, RCV000087540.1,