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rs587779458

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587779458(G;T)
Make rs587779458(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188999331
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779458
ebirs587779458
HLIrs587779458
Exacrs587779458
Varsomers587779458
Maprs587779458
PheGenIrs587779458
hapmaprs587779458
1000 genomesrs587779458
hgdprs587779458
ensemblrs587779458
gopubmedrs587779458
geneviewrs587779458
scholarrs587779458
googlers587779458
pharmgkbrs587779458
gwascentralrs587779458
openSNPrs587779458
23andMers587779458
23andMe allrs587779458
SNP Nexus

SNPshotrs587779458
SNPdbers587779458
MSV3drs587779458
GWAS Ctlgrs587779458
Max Magnitude0
ClinVar
Risk rs587779458(T;T)
Alt rs587779458(T;T)
Reference rs587779458(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.189864057G>T
CLNSRC
CLNACC RCV000087387.1,