rs201049092

Orientation

plus

Stabilized

plus

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

Make rs201049092(A;A)

Make rs201049092(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

71553110

Gene

DYSF

is a	snp
is	mentioned by
dbSNP	rs201049092
dbSNP (classic)	rs201049092
ClinGen	rs201049092
ebi	rs201049092
HLI	rs201049092
Exac	rs201049092
Gnomad	rs201049092
Varsome	rs201049092
LitVar	rs201049092
Map	rs201049092
PheGenI	rs201049092
Biobank	rs201049092
1000 genomes	rs201049092
hgdp	rs201049092
ensembl	rs201049092
geneview	rs201049092
scholar	rs201049092
google	rs201049092
pharmgkb	rs201049092
gwascentral	rs201049092
openSNP	rs201049092
23andMe	rs201049092
SNPshot	rs201049092
SNPdbe	rs201049092
MSV3d	rs201049092
GWAS Ctlg	rs201049092

Max Magnitude

0

ClinVar
Risk	rs201049092(A;A) rs201049092(C;C)
Alt	rs201049092(A;A) rs201049092(C;C)
Reference	Rs201049092(G;G)
Significance	Probable-Pathogenic
Disease	not specified Limb-girdle muscular dystrophy
Variation	info
Gene	DYSF
CLNDBN	not specified Limb-girdle muscular dystrophy, type 2B
Reversed	0
HGVS	NC_000002.11:g.71780240G>A; NC_000002.11:g.71780240G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000176067.1, RCV000201138.1,