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rs863223469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 5.5 Ehlers-Danlos Syndrome (EDS) classic type
(D;D) 0 common genotype
Make rs863223469(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134767025
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs863223469
dbSNP (classic)rs863223469
ClinGenrs863223469
ebirs863223469
HLIrs863223469
Exacrs863223469
Gnomadrs863223469
Varsomers863223469
LitVarrs863223469
Maprs863223469
PheGenIrs863223469
Biobankrs863223469
1000 genomesrs863223469
hgdprs863223469
ensemblrs863223469
geneviewrs863223469
scholarrs863223469
googlers863223469
pharmgkbrs863223469
gwascentralrs863223469
openSNPrs863223469
23andMers863223469
SNPshotrs863223469
SNPdbers863223469
MSV3drs863223469
GWAS Ctlgrs863223469
Max Magnitude5.5
ClinVar
Risk rs863223469(C;C)
Alt rs863223469(C;C)
Reference Rs863223469(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene COL5A1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.137658871dupC
CLNSRC
CLNACC RCV000197899.1,