rs587776688

Orientation

plus

Stabilized

plus

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

Make rs587776688(-;AA)

Make rs587776688(AA;AA)

Reference

GRCh38 38.1/142

Chromosome

16

Position

75636506

Gene

KARS

is a	snp
is	mentioned by
dbSNP	rs587776688
dbSNP (classic)	rs587776688
ClinGen	rs587776688
ebi	rs587776688
HLI	rs587776688
Exac	rs587776688
Gnomad	rs587776688
Varsome	rs587776688
LitVar	rs587776688
Map	rs587776688
PheGenI	rs587776688
Biobank	rs587776688
1000 genomes	rs587776688
hgdp	rs587776688
ensembl	rs587776688
geneview	rs587776688
scholar	rs587776688
google	rs587776688
pharmgkb	rs587776688
gwascentral	rs587776688
openSNP	rs587776688
23andMe	rs587776688
SNPshot	rs587776688
SNPdbe	rs587776688
MSV3d	rs587776688
GWAS Ctlg	rs587776688

Max Magnitude

0

ClinVar
Risk	rs587776688(AA;AA)
Alt	rs587776688(AA;AA)
Reference	Rs587776688(-;-)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	KARS
CLNDBN	Charcot-Marie-Tooth disease, recessive intermediate B
Reversed	0
HGVS	NC_000016.9:g.75670403_75670404dupAA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008648.6,