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rs587779680

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779680(A;A)
Make rs587779680(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999534
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779680
ebirs587779680
HLIrs587779680
Exacrs587779680
Varsomers587779680
Maprs587779680
PheGenIrs587779680
hapmaprs587779680
1000 genomesrs587779680
hgdprs587779680
ensemblrs587779680
gopubmedrs587779680
geneviewrs587779680
scholarrs587779680
googlers587779680
pharmgkbrs587779680
gwascentralrs587779680
openSNPrs587779680
23andMers587779680
23andMe allrs587779680
SNP Nexus

SNPshotrs587779680
SNPdbers587779680
MSV3drs587779680
GWAS Ctlgrs587779680
Max Magnitude0
ClinVar
Risk rs587779680(A;A)
Alt rs587779680(A;A)
Reference rs587779680(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.189864260G>A
CLNSRC
CLNACC RCV000087676.1,