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rs587779428

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779428(G;T)
Make rs587779428(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189006346
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779428
ebirs587779428
HLIrs587779428
Exacrs587779428
Varsomers587779428
Maprs587779428
PheGenIrs587779428
hapmaprs587779428
1000 genomesrs587779428
hgdprs587779428
ensemblrs587779428
gopubmedrs587779428
geneviewrs587779428
scholarrs587779428
googlers587779428
pharmgkbrs587779428
gwascentralrs587779428
openSNPrs587779428
23andMers587779428
23andMe allrs587779428
SNP Nexus

SNPshotrs587779428
SNPdbers587779428
MSV3drs587779428
GWAS Ctlgrs587779428
Max Magnitude0
ClinVar
Risk rs587779428(T;T)
Alt rs587779428(T;T)
Reference rs587779428(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.189871072G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087351.1,