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rs587779426

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587779426(A;A)
Make rs587779426(A;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991724
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779426
ebirs587779426
HLIrs587779426
Exacrs587779426
Varsomers587779426
Maprs587779426
PheGenIrs587779426
hapmaprs587779426
1000 genomesrs587779426
hgdprs587779426
ensemblrs587779426
gopubmedrs587779426
geneviewrs587779426
scholarrs587779426
googlers587779426
pharmgkbrs587779426
gwascentralrs587779426
openSNPrs587779426
23andMers587779426
23andMe allrs587779426
SNP Nexus

SNPshotrs587779426
SNPdbers587779426
MSV3drs587779426
GWAS Ctlgrs587779426
Max Magnitude0
ClinVar
Risk rs587779426(A,C;A,C)
Alt rs587779426(A,C;A,C)
Reference rs587779426(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.189856450T>A; NC_000002.11:g.189856450T>C
CLNSRC
CLNACC RCV000087349.1, RCV000087377.1,