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rs1057518925

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518925(A;G)
Make rs1057518925(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position46114006
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs1057518925
dbSNP (classic)rs1057518925
ClinGenrs1057518925
ebirs1057518925
HLIrs1057518925
Exacrs1057518925
Gnomadrs1057518925
Varsomers1057518925
LitVarrs1057518925
Maprs1057518925
PheGenIrs1057518925
Biobankrs1057518925
1000 genomesrs1057518925
hgdprs1057518925
ensemblrs1057518925
geneviewrs1057518925
scholarrs1057518925
googlers1057518925
pharmgkbrs1057518925
gwascentralrs1057518925
openSNPrs1057518925
23andMers1057518925
23andMe allrs1057518925
SNPshotrs1057518925
SNPdbers1057518925
MSV3drs1057518925
GWAS Ctlgrs1057518925
Max Magnitude0
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,