rs398124238

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AACA;AACA)	0	common in clinvar
(CAAA;CAAA)	0	common in clinvar
(I;I)	0	common genotype

Make rs398124238(-;-)

Make rs398124238(-;AACA)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137870758

Gene	LOC101928005, MYOT

is a	snp
is	mentioned by
dbSNP	rs398124238
dbSNP (classic)	rs398124238
ClinGen	rs398124238
ebi	rs398124238
HLI	rs398124238
Exac	rs398124238
Gnomad	rs398124238
Varsome	rs398124238
LitVar	rs398124238
Map	rs398124238
PheGenI	rs398124238
Biobank	rs398124238
1000 genomes	rs398124238
hgdp	rs398124238
ensembl	rs398124238
geneview	rs398124238
scholar	rs398124238
google	rs398124238
pharmgkb	rs398124238
gwascentral	rs398124238
openSNP	rs398124238
23andMe	rs398124238
SNPshot	rs398124238
SNPdbe	rs398124238
MSV3d	rs398124238
GWAS Ctlg	rs398124238

Max Magnitude

0

ClinVar
Risk	rs398124238(-;-) Rs398124238(CAAA;CAAA)
Alt	rs398124238(-;-) Rs398124238(CAAA;CAAA)
Reference	Rs398124238(AACA;AACA)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy
Variation	info
Gene	MYOT LOC101928005
CLNDBN	not provided Limb-girdle muscular dystrophy, type 1A
Reversed	0
HGVS	NC_000005.9:g.137206447_137206450delAACA
CLNSRC	ClinVar
CLNACC	RCV000081461.4, RCV000389897.1,