rs397514745

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs397514745(C;C)

Make rs397514745(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75636503

Gene

KARS

is a	snp
is	mentioned by
dbSNP	rs397514745
dbSNP (classic)	rs397514745
ClinGen	rs397514745
ebi	rs397514745
HLI	rs397514745
Exac	rs397514745
Gnomad	rs397514745
Varsome	rs397514745
LitVar	rs397514745
Map	rs397514745
PheGenI	rs397514745
Biobank	rs397514745
1000 genomes	rs397514745
hgdp	rs397514745
ensembl	rs397514745
geneview	rs397514745
scholar	rs397514745
google	rs397514745
pharmgkb	rs397514745
gwascentral	rs397514745
openSNP	rs397514745
23andMe	rs397514745
SNPshot	rs397514745
SNPdbe	rs397514745
MSV3d	rs397514745
GWAS Ctlg	rs397514745

Max Magnitude

0

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	RCV000054525.4,