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rs587779539

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779539(G;T)
Make rs587779539(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188997382
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779539
ebirs587779539
HLIrs587779539
Exacrs587779539
Varsomers587779539
Maprs587779539
PheGenIrs587779539
hapmaprs587779539
1000 genomesrs587779539
hgdprs587779539
ensemblrs587779539
gopubmedrs587779539
geneviewrs587779539
scholarrs587779539
googlers587779539
pharmgkbrs587779539
gwascentralrs587779539
openSNPrs587779539
23andMers587779539
23andMe allrs587779539
SNP Nexus

SNPshotrs587779539
SNPdbers587779539
MSV3drs587779539
GWAS Ctlgrs587779539
Max Magnitude0
ClinVar
Risk rs587779539(A,T;A,T)
Alt rs587779539(A,T;A,T)
Reference rs587779539(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.189862108G>A; NC_000002.11:g.189862108G>T
CLNSRC
CLNACC RCV000087582.1, RCV000087480.1,