rs199476325

Orientation

plus

Stabilized

plus

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

Make rs199476325(A;A)

Make rs199476325(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

3

Position

8733976

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs199476325
dbSNP (classic)	rs199476325
ClinGen	rs199476325
ebi	rs199476325
HLI	rs199476325
Exac	rs199476325
Gnomad	rs199476325
Varsome	rs199476325
LitVar	rs199476325
Map	rs199476325
PheGenI	rs199476325
Biobank	rs199476325
1000 genomes	rs199476325
hgdp	rs199476325
ensembl	rs199476325
geneview	rs199476325
scholar	rs199476325
google	rs199476325
pharmgkb	rs199476325
gwascentral	rs199476325
openSNP	rs199476325
23andMe	rs199476325
SNPshot	rs199476325
SNPdbe	rs199476325
MSV3d	rs199476325
GWAS Ctlg	rs199476325

Max Magnitude

0

ClinVar
Risk	rs199476325(A;A)
Alt	rs199476325(A;A)
Reference	Rs199476325(G;G)
Significance	Probable-Pathogenic
Disease	not provided Limb-girdle muscular dystrophy
Variation	info
Gene	SSUH2 CAV3
CLNDBN	not provided Limb-girdle muscular dystrophy, type 1C
Reversed	0
HGVS	NC_000003.11:g.8775662G>A
CLNSRC	Leiden Muscular Dystrophy pages (CAV3)
CLNACC	RCV000024415.1, RCV000234023.1,