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rs587779542

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779542(G;T)
Make rs587779542(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004357
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779542
ebirs587779542
HLIrs587779542
Exacrs587779542
Varsomers587779542
Maprs587779542
PheGenIrs587779542
hapmaprs587779542
1000 genomesrs587779542
hgdprs587779542
ensemblrs587779542
gopubmedrs587779542
geneviewrs587779542
scholarrs587779542
googlers587779542
pharmgkbrs587779542
gwascentralrs587779542
openSNPrs587779542
23andMers587779542
23andMe allrs587779542
SNP Nexus

SNPshotrs587779542
SNPdbers587779542
MSV3drs587779542
GWAS Ctlgrs587779542
Max Magnitude0
ClinVar
Risk rs587779542(T;T)
Alt rs587779542(T;T)
Reference rs587779542(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.189869083G>T
CLNSRC Ehlers-Danlos Syndrome Variant Database COL3A1
CLNACC RCV000087483.1,