rs1057517205

Orientation

minus

Stabilized

minus

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

Make rs1057517205(-;-)

Make rs1057517205(-;GGCGGGCGCGGGAAGATGGCGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

4

Position

52038252

is a	snp
is	mentioned by
dbSNP	rs1057517205
dbSNP (classic)	rs1057517205
ClinGen	rs1057517205
ebi	rs1057517205
HLI	rs1057517205
Exac	rs1057517205
Gnomad	rs1057517205
Varsome	rs1057517205
LitVar	rs1057517205
Map	rs1057517205
PheGenI	rs1057517205
Biobank	rs1057517205
1000 genomes	rs1057517205
hgdp	rs1057517205
ensembl	rs1057517205
geneview	rs1057517205
scholar	rs1057517205
google	rs1057517205
pharmgkb	rs1057517205
gwascentral	rs1057517205
openSNP	rs1057517205
23andMe	rs1057517205
SNPshot	rs1057517205
SNPdbe	rs1057517205
MSV3d	rs1057517205
GWAS Ctlg	rs1057517205

Max Magnitude

0

ClinVar
Risk	rs1057517205(-;-)
Alt	rs1057517205(-;-)
Reference	Rs1057517205(GGCGGGCGCGGGAAGATGGCGGC;GGCGGGCGCGGGAAGATGGCGGC)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene
CLNDBN	Limb-girdle muscular dystrophy, type 2E
Reversed	1
HGVS	NC_000004.11:g.52904418_52904440del23
CLNSRC
CLNACC	RCV000412344.1,