rs1057518925

Orientation

plus

Stabilized

plus

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

Make rs1057518925(A;G)

Make rs1057518925(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

21

Position

46114006

Gene

COL6A2

is a	snp
is	mentioned by
dbSNP	rs1057518925
dbSNP (classic)	rs1057518925
ClinGen	rs1057518925
ebi	rs1057518925
HLI	rs1057518925
Exac	rs1057518925
Gnomad	rs1057518925
Varsome	rs1057518925
LitVar	rs1057518925
Map	rs1057518925
PheGenI	rs1057518925
Biobank	rs1057518925
1000 genomes	rs1057518925
hgdp	rs1057518925
ensembl	rs1057518925
geneview	rs1057518925
scholar	rs1057518925
google	rs1057518925
pharmgkb	rs1057518925
gwascentral	rs1057518925
openSNP	rs1057518925
23andMe	rs1057518925
SNPshot	rs1057518925
SNPdbe	rs1057518925
MSV3d	rs1057518925
GWAS Ctlg	rs1057518925

Max Magnitude

0

ClinVar
Risk	rs1057518925(G;G)
Alt	rs1057518925(G;G)
Reference	Rs1057518925(A;A)
Significance	Probable-Pathogenic
Disease	Fatigue Hyperextensible hand joints Limb-girdle muscle weakness Muscular dystrophy
Variation	info
Gene	COL6A2
CLNDBN	Fatigue Hyperextensible hand joints Limb-girdle muscle weakness Muscular dystrophy
Reversed	0
HGVS	NC_000021.8:g.47533920A>G
CLNSRC
CLNACC	RCV000415423.1,