rs794727231

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AGCTCAT;AGCTCAT)	0	common in clinvar
(TCATAGC;TCATAGC)	0	common in clinvar

Make rs794727231(-;-)

Make rs794727231(-;TCATAGC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

22272926

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs794727231
dbSNP (classic)	rs794727231
ClinGen	rs794727231
ebi	rs794727231
HLI	rs794727231
Exac	rs794727231
Gnomad	rs794727231
Varsome	rs794727231
LitVar	rs794727231
Map	rs794727231
PheGenI	rs794727231
Biobank	rs794727231
1000 genomes	rs794727231
hgdp	rs794727231
ensembl	rs794727231
geneview	rs794727231
scholar	rs794727231
google	rs794727231
pharmgkb	rs794727231
gwascentral	rs794727231
openSNP	rs794727231
23andMe	rs794727231
SNPshot	rs794727231
SNPdbe	rs794727231
MSV3d	rs794727231
GWAS Ctlg	rs794727231

Max Magnitude

0

ClinVar
Risk	rs794727231(-;-) Rs794727231(AGCTCAT;AGCTCAT)
Alt	rs794727231(-;-) Rs794727231(AGCTCAT;AGCTCAT)
Reference	Rs794727231(TCATAGC;TCATAGC)
Significance	Pathogenic
Disease	Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy
Variation	info
Gene	ANO5
CLNDBN	Miyoshi muscular dystrophy 3 Limb-girdle muscular dystrophy, type 2L
Reversed	0
HGVS	NC_000011.9:g.22294472_22294478delTCATAGC
CLNSRC
CLNACC	RCV000175500.1, RCV000175501.1,