rs7481951

Orientation

plus

Stabilized

plus

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

Make rs7481951(A;T)

Make rs7481951(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

22250324

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs7481951
dbSNP (classic)	rs7481951
ClinGen	rs7481951
ebi	rs7481951
HLI	rs7481951
Exac	rs7481951
Gnomad	rs7481951
Varsome	rs7481951
LitVar	rs7481951
Map	rs7481951
PheGenI	rs7481951
Biobank	rs7481951
1000 genomes	rs7481951
hgdp	rs7481951
ensembl	rs7481951
geneview	rs7481951
scholar	rs7481951
google	rs7481951
pharmgkb	rs7481951
gwascentral	rs7481951
openSNP	rs7481951
23andMe	rs7481951
SNPshot	rs7481951
SNPdbe	rs7481951
MSV3d	rs7481951
GWAS Ctlg	rs7481951

GMAF

0.3489

Max Magnitude

0

?	(A;A) (A;T) (T;T)	28

ClinVar
Risk	rs7481951(C;C) rs7481951(G;G) rs7481951(T;T)
Alt	rs7481951(C;C) rs7481951(G;G) rs7481951(T;T)
Reference	Rs7481951(A;A)
Significance	Probable-non-pathogenic
Disease	not specified not provided Miyoshi myopathy Limb-Girdle Muscular Dystrophy
Variation	info
Gene	ANO5
CLNDBN	not specified not provided Miyoshi myopathy Limb-Girdle Muscular Dystrophy, Recessive
Reversed	0
HGVS	NC_000011.9:g.22271870A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000082855.9, RCV000128791.1, RCV000261985.1, RCV000386589.1,