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rs587779550

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779550(G;T)
Make rs587779550(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004135
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779550
ebirs587779550
HLIrs587779550
Exacrs587779550
Varsomers587779550
Maprs587779550
PheGenIrs587779550
hapmaprs587779550
1000 genomesrs587779550
hgdprs587779550
ensemblrs587779550
gopubmedrs587779550
geneviewrs587779550
scholarrs587779550
googlers587779550
pharmgkbrs587779550
gwascentralrs587779550
openSNPrs587779550
23andMers587779550
23andMe allrs587779550
SNP Nexus

SNPshotrs587779550
SNPdbers587779550
MSV3drs587779550
GWAS Ctlgrs587779550
Max Magnitude0
ClinVar
Risk rs587779550(A,T;A,T)
Alt rs587779550(A,T;A,T)
Reference rs587779550(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.189868861G>A; NC_000002.11:g.189868861G>T
CLNSRC
CLNACC RCV000087711.1, RCV000087491.1,