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rs730880300

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880300(A;C)
Make rs730880300(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position123371070
GeneCRB2
is asnp
is mentioned by
dbSNPrs730880300
ebirs730880300
HLIrs730880300
Exacrs730880300
Varsomers730880300
Maprs730880300
PheGenIrs730880300
hapmaprs730880300
1000 genomesrs730880300
hgdprs730880300
ensemblrs730880300
gopubmedrs730880300
geneviewrs730880300
scholarrs730880300
googlers730880300
pharmgkbrs730880300
gwascentralrs730880300
openSNPrs730880300
23andMers730880300
23andMe allrs730880300
SNP Nexus

SNPshotrs730880300
SNPdbers730880300
MSV3drs730880300
GWAS Ctlgrs730880300
Max Magnitude0
ClinVar
Risk rs730880300(C;C)
Alt rs730880300(C;C)
Reference rs730880300(A;A)
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.126133349A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000157661.3,