rs727503837

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)	0	common in clinvar
(I;I)	0	common genotype
(TTCTGGAGTGCTCTG;TTCTGGAGTGCTCTG)	0	common in clinvar

Make rs727503837(-;-)

Make rs727503837(-;TTCTGGAGTGCTCTG)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

42387852

Gene	CAPN3, LOC105370794

is a	snp
is	mentioned by
dbSNP	rs727503837
dbSNP (classic)	rs727503837
ClinGen	rs727503837
ebi	rs727503837
HLI	rs727503837
Exac	rs727503837
Gnomad	rs727503837
Varsome	rs727503837
LitVar	rs727503837
Map	rs727503837
PheGenI	rs727503837
Biobank	rs727503837
1000 genomes	rs727503837
hgdp	rs727503837
ensembl	rs727503837
geneview	rs727503837
scholar	rs727503837
google	rs727503837
pharmgkb	rs727503837
gwascentral	rs727503837
openSNP	rs727503837
23andMe	rs727503837
SNPshot	rs727503837
SNPdbe	rs727503837
MSV3d	rs727503837
GWAS Ctlg	rs727503837

Max Magnitude

0

ClinVar
Risk	rs727503837(-;-) Rs727503837(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)
Alt	rs727503837(-;-) Rs727503837(GTTCTGGAGTGCTCT;GTTCTGGAGTGCTCT)
Reference	Rs727503837(TTCTGGAGTGCTCTG;TTCTGGAGTGCTCTG)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	CAPN3
CLNDBN	Limb-girdle muscular dystrophy, type 2A
Reversed	0
HGVS	NC_000015.9:g.42680050_42680064delTTCTGGAGTGCTCTG
CLNSRC	HGMD
CLNACC	RCV000152920.5,