Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912937
rs121912937
COL6A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1255514828
rs1255514828
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs137964147
rs137964147
COL6A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs150168522
rs150168522
COL6A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568931397
rs1568931397
COL6A2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1569518138
rs1569518138
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518677
rs1569518677
COL6A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606747
rs267606747
COL6A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs267606748
rs267606748
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs267606749
rs267606749
COL6A2
0.700 GeneticVariation UNIPROT

dbSNP: rs398122821
rs398122821
COL6A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs398124119
rs398124119
COL6A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs748035948
rs748035948
COL6A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs764193290
rs764193290
COL6A3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs771941724
rs771941724
COL6A3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044457
rs797044457
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044458
rs797044458
COL6A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs797044988
rs797044988
COL6A3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs886039905
rs886039905
COL6A2
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs387906607
rs387906607
COL6A2
0.010 GeneticVariation BEFREE Here we identified a homozygous COL6A2 E624K mutation (C1 subdomain) and a homozygous COL6A2 R876S mutation (C2 subdomain) in two UCMD patients. 20106987

2010
dbSNP: rs886043113
rs886043113
COL6A3
0.010 GeneticVariation BEFREE In family III, the patient had a nonsense mutation, R2342X, causing absence of collagen VI in muscle and fibroblasts, and a severe phenotype, as has been described in patients with UCMD. 11992252

2002