rs387907298

Orientation

plus

Stabilized

plus

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

Make rs387907298(C;T)

Make rs387907298(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50168562

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs387907298
dbSNP (classic)	rs387907298
ClinGen	rs387907298
ebi	rs387907298
HLI	rs387907298
Exac	rs387907298
Gnomad	rs387907298
Varsome	rs387907298
LitVar	rs387907298
Map	rs387907298
PheGenI	rs387907298
Biobank	rs387907298
1000 genomes	rs387907298
hgdp	rs387907298
ensembl	rs387907298
geneview	rs387907298
scholar	rs387907298
google	rs387907298
pharmgkb	rs387907298
gwascentral	rs387907298
openSNP	rs387907298
23andMe	rs387907298
SNPshot	rs387907298
SNPdbe	rs387907298
MSV3d	rs387907298
GWAS Ctlg	rs387907298

Max Magnitude

0

ClinVar
Risk	rs387907298(T;T)
Alt	rs387907298(T;T)
Reference	Rs387907298(C;C)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	SGCA
CLNDBN	Limb-girdle muscular dystrophy, type 2D
Reversed	0
HGVS	NC_000017.10:g.48245923C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000030783.5,