Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv 6
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs1565573786
LOC105369759 ; DHH
0.807 0.160 12 49091165 stop gained G/C;T snv 6
rs1565295267
MYRF ; TMEM258
0.827 0.360 11 61774051 missense variant C/A snv 6
rs121918463
PTPN11
0.851 0.240 12 112477651 missense variant T/A;C;G snv 6
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5
rs1554904772
BRSK2
0.882 0.280 11 1443490 missense variant G/A snv 4
rs1480612338
LOC105369759 ; DHH
0.851 0.160 12 49090416 missense variant C/T snv 4.3E-06 4
rs1135402740
SMCHD1
0.925 0.240 18 2674018 missense variant T/G snv 4
rs1553329427
SRD5A2
0.851 0.200 2 31580683 frameshift variant A/- del 4
rs797045005
TUBA1A
0.851 0.320 12 49185140 missense variant A/G snv 4
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv 3
rs104894697
INSL3
1.000 0.120 19 17816972 missense variant G/A;C snv 3.5E-04; 4.0E-06 1
rs104894698
INSL3
1.000 0.120 19 17816946 missense variant G/A snv 4.0E-06 2.1E-05 1
rs121912555
INSL3
1.000 0.120 19 17816920 missense variant G/A;C snv 4.0E-06; 4.0E-06 1
rs121912556
INSL3
1.000 0.120 19 17816945 missense variant C/T snv 6.9E-04 2.7E-04 1
rs398122886
INSL3
1.000 0.120 19 17817033 stop gained G/A snv 1.6E-05 7.0E-06 1