rs121908457

Orientation

plus

Stabilized

plus

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

Make rs121908457(C;T)

Make rs121908457(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137870815

Gene	LOC101928005, MYOT

is a	snp
is	mentioned by
dbSNP	rs121908457
dbSNP (classic)	rs121908457
ClinGen	rs121908457
ebi	rs121908457
HLI	rs121908457
Exac	rs121908457
Gnomad	rs121908457
Varsome	rs121908457
LitVar	rs121908457
Map	rs121908457
PheGenI	rs121908457
Biobank	rs121908457
1000 genomes	rs121908457
hgdp	rs121908457
ensembl	rs121908457
geneview	rs121908457
scholar	rs121908457
google	rs121908457
pharmgkb	rs121908457
gwascentral	rs121908457
openSNP	rs121908457
23andMe	rs121908457
SNPshot	rs121908457
SNPdbe	rs121908457
MSV3d	rs121908457
GWAS Ctlg	rs121908457

Max Magnitude

0

OMIM	604103
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908457(T;T)
Alt	rs121908457(T;T)
Reference	Rs121908457(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy Myotilinopathy Progressive distal muscle weakness Progressive proximal muscle weakness
Variation	info
Gene	MYOT LOC101928005
CLNDBN	Limb-girdle muscular dystrophy, type 1A Myotilinopathy Progressive distal muscle weakness Progressive proximal muscle weakness
Reversed	0
HGVS	NC_000005.9:g.137206504C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006191.4, RCV000054443.2, RCV000414759.1,