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rs587779578

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779578(G;T)
Make rs587779578(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189008117
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779578
ebirs587779578
HLIrs587779578
Exacrs587779578
Varsomers587779578
Maprs587779578
PheGenIrs587779578
hapmaprs587779578
1000 genomesrs587779578
hgdprs587779578
ensemblrs587779578
gopubmedrs587779578
geneviewrs587779578
scholarrs587779578
googlers587779578
pharmgkbrs587779578
gwascentralrs587779578
openSNPrs587779578
23andMers587779578
23andMe allrs587779578
SNP Nexus

SNPshotrs587779578
SNPdbers587779578
MSV3drs587779578
GWAS Ctlgrs587779578
Max Magnitude0
ClinVar
Risk rs587779578(T;T)
Alt rs587779578(T;T)
Reference rs587779578(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.189872843G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087527.1,