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rs145415848

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145415848(C;T)
Make rs145415848(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position78111171
GeneCIB2
is asnp
is mentioned by
dbSNPrs145415848
ebirs145415848
HLIrs145415848
Exacrs145415848
Varsomers145415848
Maprs145415848
PheGenIrs145415848
hapmaprs145415848
1000 genomesrs145415848
hgdprs145415848
ensemblrs145415848
gopubmedrs145415848
geneviewrs145415848
scholarrs145415848
googlers145415848
pharmgkbrs145415848
gwascentralrs145415848
openSNPrs145415848
23andMers145415848
23andMe allrs145415848
SNP Nexus

SNPshotrs145415848
SNPdbers145415848
MSV3drs145415848
GWAS Ctlgrs145415848
Max Magnitude0
ClinVar
Risk rs145415848(G;G) rs145415848(T;T)
Alt rs145415848(G;G) rs145415848(T;T)
Reference Rs145415848(C;C)
Significance Pathogenic
Disease Usher syndrome Usher syndrome not specified
Variation info
Gene CIB2
CLNDBN Usher syndrome, type 1J Usher syndrome, type 1 not specified
Reversed 0
HGVS NC_000015.9:g.78403513C>G; NC_000015.9:g.78403513C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032890.3, RCV000223233.1, RCV000243546.1,