Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61750420
rs61750420
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs771409809
rs771409809
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs137854466
rs137854466
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs121918130
rs121918130
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs121908425
rs121908425
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs431905509
rs431905509
0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs753317536
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs28934908
rs28934908
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs782736894
rs782736894
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1060499548
rs1060499548
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2017 2017
dbSNP: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2019 2019
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 1.000 1 2015 2015
dbSNP: rs1057518345
rs1057518345
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1057518681
rs1057518681
0.827 0.200 8 143816821 splice acceptor variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1057518914
rs1057518914
0.790 0.160 X 20193547 missense variant G/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1057519381
rs1057519381
0.851 0.240 X 71124276 missense variant G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs112550005
rs112550005
0.742 0.240 15 48425829 stop gained G/A snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1135402761
rs1135402761
0.827 0.320 12 79448958 missense variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs121918487
rs121918487
0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1481733213
rs1481733213
ATR
0.851 0.240 3 142568059 splice region variant T/C snv
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0
dbSNP: rs1553370918
rs1553370918
0.851 0.360 2 15945602 frameshift variant TG/- delins
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.700 0