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rs587779441

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779441(C;C)
Make rs587779441(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188989415
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779441
ebirs587779441
HLIrs587779441
Exacrs587779441
Varsomers587779441
Maprs587779441
PheGenIrs587779441
hapmaprs587779441
1000 genomesrs587779441
hgdprs587779441
ensemblrs587779441
gopubmedrs587779441
geneviewrs587779441
scholarrs587779441
googlers587779441
pharmgkbrs587779441
gwascentralrs587779441
openSNPrs587779441
23andMers587779441
23andMe allrs587779441
SNP Nexus

SNPshotrs587779441
SNPdbers587779441
MSV3drs587779441
GWAS Ctlgrs587779441
Max Magnitude0
ClinVar
Risk rs587779441(A,C;A,C)
Alt rs587779441(A,C;A,C)
Reference rs587779441(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.189854141G>A; NC_000002.11:g.189854141G>C
CLNSRC
CLNACC RCV000087598.1, RCV000087365.1,