rs372221490

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a limb-girdle muscular dystrophy, type 2L mutation
(G;G)	0	common in clinvar

Make rs372221490(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

22236277

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs372221490
dbSNP (classic)	rs372221490
ClinGen	rs372221490
ebi	rs372221490
HLI	rs372221490
Exac	rs372221490
Gnomad	rs372221490
Varsome	rs372221490
LitVar	rs372221490
Map	rs372221490
PheGenI	rs372221490
Biobank	rs372221490
1000 genomes	rs372221490
hgdp	rs372221490
ensembl	rs372221490
geneview	rs372221490
scholar	rs372221490
google	rs372221490
pharmgkb	rs372221490
gwascentral	rs372221490
openSNP	rs372221490
23andMe	rs372221490
SNPshot	rs372221490
SNPdbe	rs372221490
MSV3d	rs372221490
GWAS Ctlg	rs372221490

Max Magnitude

3

aka c.762+1G>A

ClinVar
Risk	rs372221490(A;A)
Alt	rs372221490(A;A)
Reference	Rs372221490(G;G)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	ANO5
CLNDBN	Limb-girdle muscular dystrophy, type 2L
Reversed	0
HGVS	NC_000011.9:g.22257823G>A
CLNSRC	Quest Diagnostics
CLNACC	RCV000201014.2,