rs758647756

Orientation

plus

Stabilized

plus

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

Make rs758647756(C;T)

Make rs758647756(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

50167430

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs758647756
dbSNP (classic)	rs758647756
ClinGen	rs758647756
ebi	rs758647756
HLI	rs758647756
Exac	rs758647756
Gnomad	rs758647756
Varsome	rs758647756
LitVar	rs758647756
Map	rs758647756
PheGenI	rs758647756
Biobank	rs758647756
1000 genomes	rs758647756
hgdp	rs758647756
ensembl	rs758647756
geneview	rs758647756
scholar	rs758647756
google	rs758647756
pharmgkb	rs758647756
gwascentral	rs758647756
openSNP	rs758647756
23andMe	rs758647756
SNPshot	rs758647756
SNPdbe	rs758647756
MSV3d	rs758647756
GWAS Ctlg	rs758647756

Max Magnitude

0

ClinVar
Risk	rs758647756(T;T)
Alt	rs758647756(T;T)
Reference	Rs758647756(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy not specified not provided
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D not specified not provided
Reversed	0
HGVS	NC_000017.10:g.48244791C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000201165.1, RCV000365048.1, RCV000493338.1,