rs757888349

Orientation

plus

Stabilized

plus

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

Make rs757888349(C;T)

Make rs757888349(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

50167644

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs757888349
dbSNP (classic)	rs757888349
ClinGen	rs757888349
ebi	rs757888349
HLI	rs757888349
Exac	rs757888349
Gnomad	rs757888349
Varsome	rs757888349
LitVar	rs757888349
Map	rs757888349
PheGenI	rs757888349
Biobank	rs757888349
1000 genomes	rs757888349
hgdp	rs757888349
ensembl	rs757888349
geneview	rs757888349
scholar	rs757888349
google	rs757888349
pharmgkb	rs757888349
gwascentral	rs757888349
openSNP	rs757888349
23andMe	rs757888349
SNPshot	rs757888349
SNPdbe	rs757888349
MSV3d	rs757888349
GWAS Ctlg	rs757888349

Max Magnitude

0

ClinVar
Risk	rs757888349(T;T)
Alt	rs757888349(T;T)
Reference	Rs757888349(C;C)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48245005C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169146.1,