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rs587779653

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779653(-;-)
Make rs587779653(-;C)
Make rs587779653(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189003043
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779653
ebirs587779653
HLIrs587779653
Exacrs587779653
Varsomers587779653
Maprs587779653
PheGenIrs587779653
hapmaprs587779653
1000 genomesrs587779653
hgdprs587779653
ensemblrs587779653
gopubmedrs587779653
geneviewrs587779653
scholarrs587779653
googlers587779653
pharmgkbrs587779653
gwascentralrs587779653
openSNPrs587779653
23andMers587779653
23andMe allrs587779653
SNP Nexus

SNPshotrs587779653
SNPdbers587779653
MSV3drs587779653
GWAS Ctlgrs587779653
Max Magnitude0
ClinVar
Risk rs587779653(C;C)
Alt rs587779653(C;C)
Reference rs587779653(;)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189867769dupC
CLNSRC
CLNACC RCV000087634.1,