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rs587779649

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779649(A;A)
Make rs587779649(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188992230
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779649
ebirs587779649
HLIrs587779649
Exacrs587779649
Varsomers587779649
Maprs587779649
PheGenIrs587779649
hapmaprs587779649
1000 genomesrs587779649
hgdprs587779649
ensemblrs587779649
gopubmedrs587779649
geneviewrs587779649
scholarrs587779649
googlers587779649
pharmgkbrs587779649
gwascentralrs587779649
openSNPrs587779649
23andMers587779649
23andMe allrs587779649
SNP Nexus

SNPshotrs587779649
SNPdbers587779649
MSV3drs587779649
GWAS Ctlgrs587779649
Max Magnitude0
ClinVar
Risk rs587779649(A;A)
Alt rs587779649(A;A)
Reference rs587779649(T;T)
Significance Pathogenic
Disease Ehlers-Danlos syndrome
Variation info
Gene COL3A1
CLNDBN Ehlers-Danlos syndrome, type 4
Reversed 0
HGVS NC_000002.11:g.189856956T>A
CLNSRC
CLNACC RCV000087625.1,