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: rs121908146
rs121908146
4 0.851 0.120 1 247424765 missense variant C/T snv 0.800 1.000 7 2001 2014
dbSNP: rs121908147
rs121908147
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.800 1.000 7 2001 2014
dbSNP: rs121908148
rs121908148
1 1.000 0.080 1 247425329 missense variant A/G snv 0.800 1.000 7 2001 2014
dbSNP: rs121908150
rs121908150
5 0.851 0.080 1 247424227 stop gained C/T snv 0.800 1.000 7 2001 2014
dbSNP: rs28937896
rs28937896
6 0.807 0.120 1 247424507 missense variant T/C snv 0.800 0
dbSNP: rs145268073
rs145268073
1 1.000 0.080 1 247424912 missense variant G/A;C snv 6.4E-04; 4.0E-06 0.700 1.000 7 2001 2014
dbSNP: rs180177431
rs180177431
2 0.925 0.080 1 247424363 missense variant T/C snv 0.700 0
dbSNP: rs180177478
rs180177478
1 1.000 0.080 1 247425017 missense variant T/G snv 0.700 0