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rs1040238147

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position189050640
GeneCOL5A2
is asnp
is mentioned by
dbSNPrs1040238147
dbSNP (old)rs1040238147
ClinGenrs1040238147
ebirs1040238147
HLIrs1040238147
Exacrs1040238147
Gnomadrs1040238147
Varsomers1040238147
Maprs1040238147
PheGenIrs1040238147
Biobankrs1040238147
1000 genomesrs1040238147
hgdprs1040238147
ensemblrs1040238147
gopubmedrs1040238147
geneviewrs1040238147
scholarrs1040238147
googlers1040238147
pharmgkbrs1040238147
gwascentralrs1040238147
openSNPrs1040238147
23andMers1040238147
23andMe allrs1040238147
SNPshotrs1040238147
SNPdbers1040238147
MSV3drs1040238147
GWAS Ctlgrs1040238147
Max Magnitude0
ClinVar
Risk rs1040238147(T;T)
Alt rs1040238147(T;T)
Reference Rs1040238147(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene COL5A2
CLNDBN not provided
Reversed 0
HGVS NC_000002.11:g.189915366C>T
CLNSRC
CLNACC RCV000483758.1,