Source: ALL
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: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs1057518764
rs1057518764
DLX3
6 0.827 0.200 17 49991807 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs1555617226
rs1555617226
DLX3
4 0.851 0.160 17 49993440 missense variant C/A snv 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs370270828
rs370270828
BRF1
7 0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs373957300
rs373957300
BRF1
7 0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs606231416
rs606231416
BRF1
7 0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 0.700 0
dbSNP: rs606231450
rs606231450
BRF1
7 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs142343894
rs142343894
GREM2
4 0.851 0.080 1 240493250 missense variant G/C snv 1.7E-03 1.8E-03 0.010 1.000 1 2018 2018