rs397514451

Orientation

plus

Stabilized

plus

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

Make rs397514451(A;G)

Make rs397514451(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

50168398

Gene	LOC105371818, SGCA

is a	snp
is	mentioned by
dbSNP	rs397514451
dbSNP (classic)	rs397514451
ClinGen	rs397514451
ebi	rs397514451
HLI	rs397514451
Exac	rs397514451
Gnomad	rs397514451
Varsome	rs397514451
LitVar	rs397514451
Map	rs397514451
PheGenI	rs397514451
Biobank	rs397514451
1000 genomes	rs397514451
hgdp	rs397514451
ensembl	rs397514451
geneview	rs397514451
scholar	rs397514451
google	rs397514451
pharmgkb	rs397514451
gwascentral	rs397514451
openSNP	rs397514451
23andMe	rs397514451
SNPshot	rs397514451
SNPdbe	rs397514451
MSV3d	rs397514451
GWAS Ctlg	rs397514451

Max Magnitude

0

ClinVar
Risk	rs397514451(G;G)
Alt	rs397514451(G;G)
Reference	Rs397514451(A;A)
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.48245759A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010045.3,