rs267606621

Orientation

minus

Stabilized

minus

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

Make rs267606621(A;A)

Make rs267606621(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

70268356

Gene

AARS

is a	snp
is	mentioned by
dbSNP	rs267606621
dbSNP (classic)	rs267606621
ClinGen	rs267606621
ebi	rs267606621
HLI	rs267606621
Exac	rs267606621
Gnomad	rs267606621
Varsome	rs267606621
LitVar	rs267606621
Map	rs267606621
PheGenI	rs267606621
Biobank	rs267606621
1000 genomes	rs267606621
hgdp	rs267606621
ensembl	rs267606621
geneview	rs267606621
scholar	rs267606621
google	rs267606621
pharmgkb	rs267606621
gwascentral	rs267606621
openSNP	rs267606621
23andMe	rs267606621
SNPshot	rs267606621
SNPdbe	rs267606621
MSV3d	rs267606621
GWAS Ctlg	rs267606621

Max Magnitude

0

ClinVar
Risk	rs267606621(A;A)
Alt	rs267606621(A;A)
Reference	Rs267606621(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation	info
Gene	AARS
CLNDBN	Charcot-Marie-Tooth disease, type 2N Charcot-Marie-Tooth disease, type 2 Charcot-Marie-Tooth disease
Reversed	1
HGVS	NC_000016.9:g.70302259C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008987.3, RCV000168406.1, RCV000192253.1,