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rs863223457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
Make rs863223457(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position134820140
GeneCOL5A1, LOC101448202
is asnp
is mentioned by
dbSNPrs863223457
dbSNP (classic)rs863223457
ClinGenrs863223457
ebirs863223457
HLIrs863223457
Exacrs863223457
Gnomadrs863223457
Varsomers863223457
LitVarrs863223457
Maprs863223457
PheGenIrs863223457
Biobankrs863223457
1000 genomesrs863223457
hgdprs863223457
ensemblrs863223457
geneviewrs863223457
scholarrs863223457
googlers863223457
pharmgkbrs863223457
gwascentralrs863223457
openSNPrs863223457
23andMers863223457
SNPshotrs863223457
SNPdbers863223457
MSV3drs863223457
GWAS Ctlgrs863223457
Max Magnitude5.5
ClinVar
Risk rs863223457(T;T)
Alt rs863223457(T;T)
Reference Rs863223457(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL5A1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.137711986A>T
CLNSRC
CLNACC RCV000198651.2,