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: rs113331868
rs113331868
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256
9 0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
7 0.882 0.040 5 150250281 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122123
rs1554122123
5 0.925 0.040 5 150251979 splice donor variant -/A delins 0.700 1.000 1 2017 2017
dbSNP: rs1554122129
rs1554122129
6 0.882 0.040 5 150252032 missense variant T/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
8 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
12 0.882 0.040 5 150251808 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs35993949
rs35993949
9 0.882 0.040 8 67506804 missense variant G/C snv 1.5E-03 1.2E-03 0.700 0
dbSNP: rs61738009
rs61738009
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.700 0