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rs587779547

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779547(G;T)
Make rs587779547(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993425
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779547
ebirs587779547
HLIrs587779547
Exacrs587779547
Varsomers587779547
Maprs587779547
PheGenIrs587779547
hapmaprs587779547
1000 genomesrs587779547
hgdprs587779547
ensemblrs587779547
gopubmedrs587779547
geneviewrs587779547
scholarrs587779547
googlers587779547
pharmgkbrs587779547
gwascentralrs587779547
openSNPrs587779547
23andMers587779547
23andMe allrs587779547
SNP Nexus

SNPshotrs587779547
SNPdbers587779547
MSV3drs587779547
GWAS Ctlgrs587779547
Max Magnitude0
ClinVar
Risk rs587779547(T;T)
Alt rs587779547(T;T)
Reference rs587779547(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.189858151G>T
CLNSRC
CLNACC RCV000087488.1,