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rs863223444

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(T;T) 0 common in clinvar


Make rs863223444(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134753839
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs863223444
dbSNP (classic)rs863223444
ClinGenrs863223444
ebirs863223444
HLIrs863223444
Exacrs863223444
Gnomadrs863223444
Varsomers863223444
LitVarrs863223444
Maprs863223444
PheGenIrs863223444
Biobankrs863223444
1000 genomesrs863223444
hgdprs863223444
ensemblrs863223444
geneviewrs863223444
scholarrs863223444
googlers863223444
pharmgkbrs863223444
gwascentralrs863223444
openSNPrs863223444
23andMers863223444
SNPshotrs863223444
SNPdbers863223444
MSV3drs863223444
GWAS Ctlgrs863223444
Max Magnitude5.5
ClinVar
Risk rs863223444(A;A)
Alt rs863223444(A;A)
Reference Rs863223444(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene COL5A1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.137645685T>A
CLNSRC
CLNACC RCV000196263.1,