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: rs121912935
rs121912935
1.000 0.120 21 45990792 missense variant G/A;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 5 1996 2010
dbSNP: rs121912936
rs121912936
1.000 0.120 21 45984403 missense variant A/G snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 5 1996 2017
dbSNP: rs121912939
rs121912939
0.882 0.160 21 45989617 missense variant G/A;C;T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 5 1994 2017
dbSNP: rs121912940
rs121912940
1.000 0.120 21 46115881 missense variant G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 5 1996 2010
dbSNP: rs121434555
rs121434555
1.000 0.120 2 237367010 missense variant A/C snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 1 2010 2010
dbSNP: rs267606747
rs267606747
0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 1 2010 2010
dbSNP: rs267606750
rs267606750
1.000 0.120 21 46125509 missense variant G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 1 2002 2010
dbSNP: rs794727188
rs794727188
1.000 0.120 2 237360131 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 1.000 1 2010 2010
dbSNP: rs117725825
rs117725825
1.000 0.120 21 46132287 missense variant C/G;T snv 2.5E-03
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 0
dbSNP: rs121434553
rs121434553
1.000 0.120 2 237367151 missense variant C/T snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.800 0
dbSNP: rs138049094
rs138049094
1.000 0.120 2 237369064 missense variant T/C snv 5.1E-04 3.0E-04
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 5 1998 2010
dbSNP: rs201093313
rs201093313
1.000 0.120 21 45989100 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 5 1996 2010
dbSNP: rs35227432
rs35227432
1.000 0.120 2 237379103 missense variant C/A;T snv 8.0E-06; 1.5E-03
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 5 1998 2010
dbSNP: rs11903206
rs11903206
1.000 0.120 2 237336278 missense variant G/A snv 3.9E-03 1.4E-02
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 4 1998 2007
dbSNP: rs146092501
rs146092501
1.000 0.120 2 237371861 missense variant C/T snv 6.2E-03 5.9E-03
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 4 1998 2007
dbSNP: rs794727418
rs794727418
1.000 0.120 21 46125913 missense variant G/A snv 4.0E-06
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 4 1996 2007
dbSNP: rs200478135
rs200478135
1.000 0.120 2 237363363 missense variant C/T snv 4.8E-05 3.5E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 1 2010 2010
dbSNP: rs751040647
rs751040647
1.000 0.120 21 45999190 missense variant A/C snv 1.1E-04 1.5E-04
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 1.000 1 2010 2010
dbSNP: rs1064793840
rs1064793840
1.000 0.120 21 45989094 missense variant G/A snv
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 0
dbSNP: rs114284669
rs114284669
1.000 0.120 2 237376802 missense variant T/C;G snv 2.1E-04
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 0
dbSNP: rs11553519
rs11553519
1.000 0.120 21 45984388 missense variant G/A;C snv 4.2E-02; 2.4E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1
0.700 0