rs1057517377

Orientation

plus

Stabilized

plus

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

Make rs1057517377(-;-)

Make rs1057517377(-;AA)

Reference

GRCh38.p7 38.3/150

Chromosome

17

Position

50170149

Gene

SGCA

is a	snp
is	mentioned by
dbSNP	rs1057517377
dbSNP (classic)	rs1057517377
ClinGen	rs1057517377
ebi	rs1057517377
HLI	rs1057517377
Exac	rs1057517377
Gnomad	rs1057517377
Varsome	rs1057517377
LitVar	rs1057517377
Map	rs1057517377
PheGenI	rs1057517377
Biobank	rs1057517377
1000 genomes	rs1057517377
hgdp	rs1057517377
ensembl	rs1057517377
geneview	rs1057517377
scholar	rs1057517377
google	rs1057517377
pharmgkb	rs1057517377
gwascentral	rs1057517377
openSNP	rs1057517377
23andMe	rs1057517377
SNPshot	rs1057517377
SNPdbe	rs1057517377
MSV3d	rs1057517377
GWAS Ctlg	rs1057517377

Max Magnitude

0

ClinVar
Risk	rs1057517377(-;-)
Alt	rs1057517377(-;-)
Reference	Rs1057517377(AA;AA)
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.48247510_48247511delAA
CLNSRC
CLNACC	RCV000409217.1,