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: rs193922538
rs193922538
2 0.925 0.200 8 142879689 missense variant G/A snv 9.9E-05 7.7E-05 0.700 0
dbSNP: rs193922539
rs193922539
2 0.925 0.200 8 142879163 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs193922540
rs193922540
1 1.000 0.200 8 142877205 missense variant C/T snv 1.4E-05 0.700 0
dbSNP: rs193922541
rs193922541
1 1.000 0.200 8 142876680 splice donor variant A/G snv 0.700 0
dbSNP: rs61752786
rs61752786
1 1.000 0.200 8 142875713 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.7E-02 0.700 0
dbSNP: rs104894070
rs104894070
3 0.882 0.200 8 142879146 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs104894071
rs104894071
3 0.882 0.200 8 142875730 missense variant G/T snv 0.010 1.000 1 2006 2006
dbSNP: rs5282
rs5282
3 0.882 0.200 8 142879627 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2016 2016