Source: CURATED ×
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: rs11554290
rs11554290
25 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 16 1989 2019
dbSNP: rs1057519695
rs1057519695
1 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 14 1989 2019
dbSNP: rs1057519834
rs1057519834
1 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 1 2005 2019
dbSNP: rs121913254
rs121913254
3 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 13 1989 2016
dbSNP: rs121913237
rs121913237
12 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 7 1989 2016
dbSNP: rs121913250
rs121913250
13 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.720 1.000 8 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 2 2001 2014
dbSNP: rs121913255
rs121913255
19 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs121434596
rs121434596
14 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2014
dbSNP: rs121434595
rs121434595
13 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 9 1989 2014