rs121908458

Orientation

plus

Stabilized

plus

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

Make rs121908458(C;G)

Make rs121908458(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137870830

Gene	LOC101928005, MYOT

is a	snp
is	mentioned by
dbSNP	rs121908458
dbSNP (classic)	rs121908458
ClinGen	rs121908458
ebi	rs121908458
HLI	rs121908458
Exac	rs121908458
Gnomad	rs121908458
Varsome	rs121908458
LitVar	rs121908458
Map	rs121908458
PheGenI	rs121908458
Biobank	rs121908458
1000 genomes	rs121908458
hgdp	rs121908458
ensembl	rs121908458
geneview	rs121908458
scholar	rs121908458
google	rs121908458
pharmgkb	rs121908458
gwascentral	rs121908458
openSNP	rs121908458
23andMe	rs121908458
SNPshot	rs121908458
SNPdbe	rs121908458
MSV3d	rs121908458
GWAS Ctlg	rs121908458

Max Magnitude

0

OMIM	604103
Desc
Variant	0003
Related	also

OMIM	604103
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908458(G;G) rs121908458(T;T)
Alt	rs121908458(G;G) rs121908458(T;T)
Reference	Rs121908458(C;C)
Significance	Pathogenic
Disease	Myotilinopathy Myofibrillar myopathy
Variation	info
Gene	MYOT LOC101928005
CLNDBN	Myotilinopathy Myofibrillar myopathy
Reversed	0
HGVS	NC_000005.9:g.137206519C>G; NC_000005.9:g.137206519C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006193.6, RCV000239643.1, RCV000006194.6,