Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119462982
rs119462982
POMT1
2 1.000 0.120 9 131509801 missense variant G/C snv 8.0E-06 0.800 0
dbSNP: rs398124245
rs398124245
POMT1
4 0.851 0.120 9 131523025 frameshift variant -/G delins 2.1E-04 0.700 1.000 6 2002 2014
dbSNP: rs119462987
rs119462987
POMT1
3 0.882 0.120 9 131522160 missense variant G/A snv 1.4E-05 0.700 1.000 5 2006 2012
dbSNP: rs766648827
rs766648827
POMT1
3 0.882 0.120 9 131509809 splice donor variant G/C;T snv 4.0E-06 7.0E-06 0.700 1.000 5 2002 2012
dbSNP: rs1453773610
rs1453773610
POMT1
3 0.882 0.120 9 131512039 splice acceptor variant A/C;T snv 7.0E-06 0.700 1.000 3 2002 2006
dbSNP: rs1564365317
rs1564365317
POMT1
3 0.882 0.120 9 131515524 splice donor variant T/C snv 0.700 1.000 3 2002 2006
dbSNP: rs1564364615
rs1564364615
POMT1
3 0.882 0.120 9 131515445 frameshift variant CT/- del 0.700 1.000 2 2007 2008
dbSNP: rs200056620
rs200056620
POMT1
3 0.882 0.120 9 131513243 stop gained C/G;T snv 4.0E-06; 3.6E-05 0.700 1.000 2 2002 2016
dbSNP: rs149682171
rs149682171
POMT1
3 0.882 0.120 9 131522113 missense variant C/T snv 6.0E-05 2.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs1356791510
rs1356791510
POMT1
3 0.882 0.120 9 131510058 frameshift variant A/- del 8.0E-06 0.700 0
dbSNP: rs1554780670
rs1554780670
POMT1 ; LOC105376301
3 0.882 0.120 9 131518533 stop gained T/G snv 0.700 0
dbSNP: rs397514501
rs397514501
POMT1
1 1.000 0.120 9 131508913 missense variant A/G snv 0.700 0
dbSNP: rs397515400
rs397515400
POMT1
1 1.000 0.120 9 131513331 missense variant C/T snv 8.2E-06 0.700 0
dbSNP: rs765230689
rs765230689
POMT1
3 0.882 0.120 9 131512044 stop gained T/A;C snv 8.0E-06 0.700 0
dbSNP: rs794727208
rs794727208
POMT1
3 0.882 0.120 9 131521445 stop gained C/T snv 4.2E-05 0.700 0