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rs587779483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Ehlers-Danlos Syndrome (EDS) type 4
Make rs587779483(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position189004046
GeneCOL3A1
is asnp
is mentioned by
dbSNPrs587779483
dbSNP (classic)rs587779483
ClinGenrs587779483
ebirs587779483
HLIrs587779483
Exacrs587779483
Gnomadrs587779483
Varsomers587779483
LitVarrs587779483
Maprs587779483
PheGenIrs587779483
Biobankrs587779483
1000 genomesrs587779483
hgdprs587779483
ensemblrs587779483
geneviewrs587779483
scholarrs587779483
googlers587779483
pharmgkbrs587779483
gwascentralrs587779483
openSNPrs587779483
23andMers587779483
SNPshotrs587779483
SNPdbers587779483
MSV3drs587779483
GWAS Ctlgrs587779483
Max Magnitude6.5
ClinVar
Risk rs587779483(T;T)
Alt rs587779483(T;T)
Reference Rs587779483(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.189868772G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000087415.1,