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

rs397515412

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515412(C;C)
Make rs397515412(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position78105913
GeneCIB2
is asnp
is mentioned by
dbSNPrs397515412
dbSNP (classic)rs397515412
ClinGenrs397515412
ebirs397515412
HLIrs397515412
Exacrs397515412
Gnomadrs397515412
Varsomers397515412
LitVarrs397515412
Maprs397515412
PheGenIrs397515412
Biobankrs397515412
1000 genomesrs397515412
hgdprs397515412
ensemblrs397515412
geneviewrs397515412
scholarrs397515412
googlers397515412
pharmgkbrs397515412
gwascentralrs397515412
openSNPrs397515412
23andMers397515412
SNPshotrs397515412
SNPdbers397515412
MSV3drs397515412
GWAS Ctlgrs397515412
Max Magnitude0
ClinVar
Risk rs397515412(C;C)
Alt rs397515412(C;C)
Reference Rs397515412(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene CIB2
CLNDBN Deafness, autosomal recessive 48
Reversed 1
HGVS NC_000015.9:g.78398255A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032889.3,