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rs397514746

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514746(A;A)
Make rs397514746(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position75631726
GeneKARS
is asnp
is mentioned by
dbSNPrs397514746
ebirs397514746
HLIrs397514746
Exacrs397514746
Varsomers397514746
Maprs397514746
PheGenIrs397514746
hapmaprs397514746
1000 genomesrs397514746
hgdprs397514746
ensemblrs397514746
gopubmedrs397514746
geneviewrs397514746
scholarrs397514746
googlers397514746
pharmgkbrs397514746
gwascentralrs397514746
openSNPrs397514746
23andMers397514746
23andMe allrs397514746
SNP Nexus

SNPshotrs397514746
SNPdbers397514746
MSV3drs397514746
GWAS Ctlgrs397514746
Max Magnitude0
ClinVar
Risk rs397514746(A;A)
Alt rs397514746(A;A)
Reference rs397514746(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene KARS
CLNDBN Deafness, autosomal recessive 89
Reversed 1
HGVS NC_000016.9:g.75665624C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000054526.3,