Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906608
rs387906608
COL6A2
1.000 0.160 21 46132118 missense variant C/A;G;T snv 5.2E-06; 2.1E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.810 1.000 3 2005 2010
dbSNP: rs267606746
rs267606746
COL6A1
1.000 0.160 21 45989120 missense variant G/A snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.800 1.000 1 2010 2010
dbSNP: rs121912938
rs121912938
COL6A1
0.882 0.160 21 45989129 missense variant G/A snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 4 2005 2010
dbSNP: rs121912939
rs121912939
COL6A1
0.882 0.160 21 45989617 missense variant G/A;C;T snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 3 2005 2007
dbSNP: rs75120695
rs75120695
COL6A2
1.000 0.160 21 46126166 missense variant G/A;C snv 4.4E-03
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 2 2005 2005
dbSNP: rs778940391
rs778940391
COL6A3
1.000 0.160 2 237367167 missense variant C/T snv 1.6E-04 9.1E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 1 2005 2005
dbSNP: rs80272723
rs80272723
COL6A3
1.000 0.160 2 237371833 missense variant C/A;T snv 1.0E-02
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 1.000 1 2005 2005
dbSNP: rs112638391
rs112638391
COL6A3
1.000 0.160 2 237374900 missense variant C/T snv 3.0E-03 3.0E-03
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs1255514828
rs1255514828
COL6A2
1.000 0.160 21 46132002 missense variant T/C snv 4.2E-06 7.0E-06
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs267606748
rs267606748
COL6A2
0.882 0.160 21 46115917 missense variant G/A snv
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0
dbSNP: rs267606749
rs267606749
COL6A2
1.000 0.160 21 46121590 missense variant G/A snv 2.4E-05 4.9E-05
CUI: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.700 0