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rs564375308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs564375308(C;T)
Make rs564375308(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position134806229
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs564375308
dbSNP (classic)rs564375308
ClinGenrs564375308
ebirs564375308
HLIrs564375308
Exacrs564375308
Gnomadrs564375308
Varsomers564375308
LitVarrs564375308
Maprs564375308
PheGenIrs564375308
Biobankrs564375308
1000 genomesrs564375308
hgdprs564375308
ensemblrs564375308
geneviewrs564375308
scholarrs564375308
googlers564375308
pharmgkbrs564375308
gwascentralrs564375308
openSNPrs564375308
23andMers564375308
SNPshotrs564375308
SNPdbers564375308
MSV3drs564375308
GWAS Ctlgrs564375308
Max Magnitude0
ClinVar
Risk rs564375308(T;T)
Alt rs564375308(T;T)
Reference Rs564375308(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL5A1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.137698075C>T
CLNSRC
CLNACC RCV000200766.1,