rs121908833

Orientation

minus

Stabilized

minus

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

Make rs121908833(A;A)

Make rs121908833(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

32810994

Gene

YARS

is a	snp
is	mentioned by
dbSNP	rs121908833
dbSNP (classic)	rs121908833
ClinGen	rs121908833
ebi	rs121908833
HLI	rs121908833
Exac	rs121908833
Gnomad	rs121908833
Varsome	rs121908833
LitVar	rs121908833
Map	rs121908833
PheGenI	rs121908833
Biobank	rs121908833
1000 genomes	rs121908833
hgdp	rs121908833
ensembl	rs121908833
geneview	rs121908833
scholar	rs121908833
google	rs121908833
pharmgkb	rs121908833
gwascentral	rs121908833
openSNP	rs121908833
23andMe	rs121908833
SNPshot	rs121908833
SNPdbe	rs121908833
MSV3d	rs121908833
GWAS Ctlg	rs121908833

Max Magnitude

0

OMIM	603623
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121908833(A;A)
Alt	rs121908833(A;A)
Reference	Rs121908833(G;G)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease
Variation	info
Gene	YARS
CLNDBN	Charcot-Marie-Tooth disease, dominant intermediate C
Reversed	1
HGVS	NC_000001.10:g.33276595C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006565.3,