rs141656719

Orientation

plus

Stabilized

plus

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

Make rs141656719(C;T)

Make rs141656719(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

42401754

Gene

CAPN3

is a	snp
is	mentioned by
dbSNP	rs141656719
dbSNP (classic)	rs141656719
ClinGen	rs141656719
ebi	rs141656719
HLI	rs141656719
Exac	rs141656719
Gnomad	rs141656719
Varsome	rs141656719
LitVar	rs141656719
Map	rs141656719
PheGenI	rs141656719
Biobank	rs141656719
1000 genomes	rs141656719
hgdp	rs141656719
ensembl	rs141656719
geneview	rs141656719
scholar	rs141656719
google	rs141656719
pharmgkb	rs141656719
gwascentral	rs141656719
openSNP	rs141656719
23andMe	rs141656719
SNPshot	rs141656719
SNPdbe	rs141656719
MSV3d	rs141656719
GWAS Ctlg	rs141656719

Max Magnitude

0

ClinVar
Risk	rs141656719(T;T)
Alt	rs141656719(T;T)
Reference	Rs141656719(C;C)
Significance	Pathogenic
Disease	not provided Limb-girdle muscular dystrophy
Variation	info
Gene	CAPN3
CLNDBN	not provided Limb-girdle muscular dystrophy, type 2A
Reversed	0
HGVS	NC_000015.9:g.42693952C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000152924.3, RCV000173975.3,