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rs587779498

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779498(G;T)
Make rs587779498(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188993362
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779498
ebirs587779498
HLIrs587779498
Exacrs587779498
Varsomers587779498
Maprs587779498
PheGenIrs587779498
hapmaprs587779498
1000 genomesrs587779498
hgdprs587779498
ensemblrs587779498
gopubmedrs587779498
geneviewrs587779498
scholarrs587779498
googlers587779498
pharmgkbrs587779498
gwascentralrs587779498
openSNPrs587779498
23andMers587779498
23andMe allrs587779498
SNP Nexus

SNPshotrs587779498
SNPdbers587779498
MSV3drs587779498
GWAS Ctlgrs587779498
Max Magnitude0
ClinVar
Risk rs587779498(T;T)
Alt rs587779498(T;T)
Reference rs587779498(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.189858088G>T
CLNSRC
CLNACC RCV000087432.1,