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rs863223501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(G;G) 0 common in clinvar


Make rs863223501(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position189104271
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs863223501
dbSNP (classic)rs863223501
ClinGenrs863223501
ebirs863223501
HLIrs863223501
Exacrs863223501
Gnomadrs863223501
Varsomers863223501
LitVarrs863223501
Maprs863223501
PheGenIrs863223501
Biobankrs863223501
1000 genomesrs863223501
hgdprs863223501
ensemblrs863223501
geneviewrs863223501
scholarrs863223501
googlers863223501
pharmgkbrs863223501
gwascentralrs863223501
openSNPrs863223501
23andMers863223501
SNPshotrs863223501
SNPdbers863223501
MSV3drs863223501
GWAS Ctlgrs863223501
Max Magnitude5.5
ClinVar
Risk rs863223501(A;A)
Alt rs863223501(A;A)
Reference Rs863223501(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL5A2
CLNDBN not provided
Reversed 1
HGVS NC_000002.11:g.189968997C>T
CLNSRC
CLNACC RCV000198454.1,