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rs147412276

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs147412276(A;A)
Make rs147412276(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position123376950
GeneCRB2
is asnp
is mentioned by
dbSNPrs147412276
dbSNP (classic)rs147412276
ClinGenrs147412276
ebirs147412276
HLIrs147412276
Exacrs147412276
Gnomadrs147412276
Varsomers147412276
LitVarrs147412276
Maprs147412276
PheGenIrs147412276
Biobankrs147412276
1000 genomesrs147412276
hgdprs147412276
ensemblrs147412276
geneviewrs147412276
scholarrs147412276
googlers147412276
pharmgkbrs147412276
gwascentralrs147412276
openSNPrs147412276
23andMers147412276
SNPshotrs147412276
SNPdbers147412276
MSV3drs147412276
GWAS Ctlgrs147412276
Max Magnitude0
ClinVar
Risk rs147412276(A;A) rs147412276(C;C)
Alt rs147412276(A;A) rs147412276(C;C)
Reference Rs147412276(G;G)
Significance Pathogenic
Disease Focal segmental glomerulosclerosis 9
Variation info
Gene CRB2
CLNDBN Focal segmental glomerulosclerosis 9
Reversed 0
HGVS NC_000009.11:g.126139229G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000157658.3,