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rs587779427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
Make rs587779427(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position188991005
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779427
dbSNP (classic)rs587779427
ClinGenrs587779427
ebirs587779427
HLIrs587779427
Exacrs587779427
Gnomadrs587779427
Varsomers587779427
LitVarrs587779427
Maprs587779427
PheGenIrs587779427
Biobankrs587779427
1000 genomesrs587779427
hgdprs587779427
ensemblrs587779427
geneviewrs587779427
scholarrs587779427
googlers587779427
pharmgkbrs587779427
gwascentralrs587779427
openSNPrs587779427
23andMers587779427
SNPshotrs587779427
SNPdbers587779427
MSV3drs587779427
GWAS Ctlgrs587779427
Max Magnitude6.5
ClinVar
Risk rs587779427(T;T)
Alt rs587779427(T;T)
Reference Rs587779427(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.189855731G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000087350.1,