rs747719953

Orientation

plus

Stabilized

plus

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

Make rs747719953(C;T)

Make rs747719953(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

11

Position

22262137

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs747719953
dbSNP (classic)	rs747719953
ClinGen	rs747719953
ebi	rs747719953
HLI	rs747719953
Exac	rs747719953
Gnomad	rs747719953
Varsome	rs747719953
LitVar	rs747719953
Map	rs747719953
PheGenI	rs747719953
Biobank	rs747719953
1000 genomes	rs747719953
hgdp	rs747719953
ensembl	rs747719953
geneview	rs747719953
scholar	rs747719953
google	rs747719953
pharmgkb	rs747719953
gwascentral	rs747719953
openSNP	rs747719953
23andMe	rs747719953
SNPshot	rs747719953
SNPdbe	rs747719953
MSV3d	rs747719953
GWAS Ctlg	rs747719953

Max Magnitude

0

ClinVar
Risk	rs747719953(T;T)
Alt	rs747719953(T;T)
Reference	Rs747719953(C;C)
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.22283683C>T
CLNSRC
CLNACC	RCV000331633.1,