rs397514746

Orientation

minus

Stabilized

minus

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

Make rs397514746(A;A)

Make rs397514746(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75631726

Gene

KARS

is a	snp
is	mentioned by
dbSNP	rs397514746
dbSNP (classic)	rs397514746
ClinGen	rs397514746
ebi	rs397514746
HLI	rs397514746
Exac	rs397514746
Gnomad	rs397514746
Varsome	rs397514746
LitVar	rs397514746
Map	rs397514746
PheGenI	rs397514746
Biobank	rs397514746
1000 genomes	rs397514746
hgdp	rs397514746
ensembl	rs397514746
geneview	rs397514746
scholar	rs397514746
google	rs397514746
pharmgkb	rs397514746
gwascentral	rs397514746
openSNP	rs397514746
23andMe	rs397514746
SNPshot	rs397514746
SNPdbe	rs397514746
MSV3d	rs397514746
GWAS Ctlg	rs397514746

Max Magnitude

0

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	RCV000054526.4,