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rs397514745

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514745(C;C)
Make rs397514745(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75636503
GeneKARS
is asnp
is mentioned by
dbSNPrs397514745
ebirs397514745
HLIrs397514745
Exacrs397514745
Varsomers397514745
Maprs397514745
PheGenIrs397514745
hapmaprs397514745
1000 genomesrs397514745
hgdprs397514745
ensemblrs397514745
gopubmedrs397514745
geneviewrs397514745
scholarrs397514745
googlers397514745
pharmgkbrs397514745
gwascentralrs397514745
openSNPrs397514745
23andMers397514745
23andMe allrs397514745
SNP Nexus

SNPshotrs397514745
SNPdbers397514745
MSV3drs397514745
GWAS Ctlgrs397514745
Max Magnitude0
ClinVar
Risk rs397514745(C;C)
Alt rs397514745(C;C)
Reference rs397514745(T;T)
Significance Pathogenic
Disease Deafness
Variation info
Gene KARS
CLNDBN Deafness, autosomal recessive 89
Reversed 1
HGVS NC_000016.9:g.75670401A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000054525.3,