rs121908834

Orientation

minus

Stabilized

minus

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

Make rs121908834(A;A)

Make rs121908834(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

32797768

Gene

YARS

is a	snp
is	mentioned by
dbSNP	rs121908834
dbSNP (classic)	rs121908834
ClinGen	rs121908834
ebi	rs121908834
HLI	rs121908834
Exac	rs121908834
Gnomad	rs121908834
Varsome	rs121908834
LitVar	rs121908834
Map	rs121908834
PheGenI	rs121908834
Biobank	rs121908834
1000 genomes	rs121908834
hgdp	rs121908834
ensembl	rs121908834
geneview	rs121908834
scholar	rs121908834
google	rs121908834
pharmgkb	rs121908834
gwascentral	rs121908834
openSNP	rs121908834
23andMe	rs121908834
SNPshot	rs121908834
SNPdbe	rs121908834
MSV3d	rs121908834
GWAS Ctlg	rs121908834

Max Magnitude

0

OMIM	603623
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908834(A;A) rs121908834(C;C)
Alt	rs121908834(A;A) rs121908834(C;C)
Reference	Rs121908834(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.33263369C>G; NC_000001.10:g.33263369C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000235060.1, RCV000006566.3,