Have questions? Visit https://www.reddit.com/r/SNPedia

rs730880377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880377(C;T)
Make rs730880377(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position123370950
GeneCRB2
is asnp
is mentioned by
dbSNPrs730880377
dbSNP (classic)rs730880377
ClinGenrs730880377
ebirs730880377
HLIrs730880377
Exacrs730880377
Gnomadrs730880377
Varsomers730880377
LitVarrs730880377
Maprs730880377
PheGenIrs730880377
Biobankrs730880377
1000 genomesrs730880377
hgdprs730880377
ensemblrs730880377
geneviewrs730880377
scholarrs730880377
googlers730880377
pharmgkbrs730880377
gwascentralrs730880377
openSNPrs730880377
23andMers730880377
SNPshotrs730880377
SNPdbers730880377
MSV3drs730880377
GWAS Ctlgrs730880377
Max Magnitude0
ClinVar
Risk rs730880377(T;T)
Alt rs730880377(T;T)
Reference Rs730880377(C;C)
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.126133229C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000157662.3,