rs368970223

Orientation

plus

Stabilized

plus

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

Make rs368970223(C;T)

Make rs368970223(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

11

Position

22255403

Gene

ANO5

is a	snp
is	mentioned by
dbSNP	rs368970223
dbSNP (classic)	rs368970223
ClinGen	rs368970223
ebi	rs368970223
HLI	rs368970223
Exac	rs368970223
Gnomad	rs368970223
Varsome	rs368970223
LitVar	rs368970223
Map	rs368970223
PheGenI	rs368970223
Biobank	rs368970223
1000 genomes	rs368970223
hgdp	rs368970223
ensembl	rs368970223
geneview	rs368970223
scholar	rs368970223
google	rs368970223
pharmgkb	rs368970223
gwascentral	rs368970223
openSNP	rs368970223
23andMe	rs368970223
SNPshot	rs368970223
SNPdbe	rs368970223
MSV3d	rs368970223
GWAS Ctlg	rs368970223

Max Magnitude

0

ClinVar
Risk	rs368970223(T;T)
Alt	rs368970223(T;T)
Reference	Rs368970223(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.22276949C>T
CLNSRC
CLNACC	RCV000366049.1,