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rs387906340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906340(CT;CT)
Make rs387906340(CT;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position47576523
GeneCD2AP
is asnp
is mentioned by
dbSNPrs387906340
dbSNP (classic)rs387906340
ClinGenrs387906340
ebirs387906340
HLIrs387906340
Exacrs387906340
Gnomadrs387906340
Varsomers387906340
LitVarrs387906340
Maprs387906340
PheGenIrs387906340
Biobankrs387906340
1000 genomesrs387906340
hgdprs387906340
ensemblrs387906340
geneviewrs387906340
scholarrs387906340
googlers387906340
pharmgkbrs387906340
gwascentralrs387906340
openSNPrs387906340
23andMers387906340
SNPshotrs387906340
SNPdbers387906340
MSV3drs387906340
GWAS Ctlgrs387906340
Max Magnitude0
ClinVar
Risk rs387906340(CT;CT)
Alt rs387906340(CT;CT)
Reference Rs387906340(G;G)
Significance Pathogenic
Disease Focal segmental glomerulosclerosis 3
Variation info
Gene CD2AP
CLNDBN Focal segmental glomerulosclerosis 3
Reversed 0
HGVS NC_000006.11:g.47544259_47544260delGCinsCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000006057.2,