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rs375072557

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs375072557(A;A)
Make rs375072557(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position123371419
GeneCRB2
is asnp
is mentioned by
dbSNPrs375072557
dbSNP (classic)rs375072557
ClinGenrs375072557
ebirs375072557
HLIrs375072557
Exacrs375072557
Gnomadrs375072557
Varsomers375072557
LitVarrs375072557
Maprs375072557
PheGenIrs375072557
Biobankrs375072557
1000 genomesrs375072557
hgdprs375072557
ensemblrs375072557
geneviewrs375072557
scholarrs375072557
googlers375072557
pharmgkbrs375072557
gwascentralrs375072557
openSNPrs375072557
23andMers375072557
SNPshotrs375072557
SNPdbers375072557
MSV3drs375072557
GWAS Ctlgrs375072557
Max Magnitude0
ClinVar
Risk rs375072557(A;A)
Alt rs375072557(A;A)
Reference Rs375072557(G;G)
Significance Pathogenic
Disease Ventriculomegaly with cystic kidney disease
Variation info
Gene CRB2
CLNDBN Ventriculomegaly with cystic kidney disease
Reversed 0
HGVS NC_000009.11:g.126133698G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000157659.3,