Source: BEFREE ×
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: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 16 1989 2019
dbSNP: rs11554290
rs11554290
38 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 16 1989 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 15 2005 2019
dbSNP: rs121913254
rs121913254
29 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 8 1989 2016
dbSNP: rs121913237
rs121913237
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 4 1989 2016
dbSNP: rs121913250
rs121913250
14 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 2 1989 2016
dbSNP: rs121913248
rs121913248
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 1 2001 2014