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: rs1060499757
rs1060499757
ASPM
1 1 197101677 frameshift variant CT/- delins 0.700 0
dbSNP: rs1060499758
rs1060499758
ASPM
1 1 197094079 splice region variant C/T snv 0.700 0
dbSNP: rs748016594
rs748016594
KIF23
1 15 69426090 missense variant T/A;C snv 4.4E-06 0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
2 1.000 22 41147864 frameshift variant -/G delins 0.700 0
dbSNP: rs1060499759
rs1060499759
ATRX
2 1.000 X 77688879 missense variant A/T snv 0.700 0
dbSNP: rs1060499760
rs1060499760
ATRX
2 1.000 X 77683580 missense variant G/A snv 0.700 0
dbSNP: rs1164465811
rs1164465811
WWOX
2 1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs121909123
rs121909123
TCF4
2 1.000 0.200 18 55228993 missense variant C/G;T snv 0.700 0
dbSNP: rs1481539409
rs1481539409
ASNS ; CZ1P-ASNS
2 1.000 7 97859285 frameshift variant T/- delins 0.700 0
dbSNP: rs1554777480
rs1554777480
STXBP1
2 9 127666235 missense variant C/G snv 0.700 0
dbSNP: rs199422146
rs199422146
ASPM
2 1.000 0.120 1 197142522 frameshift variant CT/- delins 7.0E-06 0.700 0
dbSNP: rs201785518
rs201785518
ANKLE2
2 1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05 0.700 0
dbSNP: rs367962377
rs367962377
MYCN
2 1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs863225465
rs863225465
ANKLE2
2 1.000 12 132734559 missense variant G/C snv 0.700 0
dbSNP: rs879255523
rs879255523
CIT
2 1.000 0.120 12 119857525 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs879255524
rs879255524
CIT
2 1.000 0.120 12 119850217 missense variant G/C snv 0.700 0
dbSNP: rs948326794
rs948326794
ASNS ; CZ1P-ASNS
2 1.000 7 97854653 stop gained C/A;G snv 1.4E-05 0.700 0
dbSNP: rs771551765
rs771551765
TMEM67
3 0.925 0.200 8 93815388 missense variant G/A snv 8.0E-06 4.2E-05 0.700 1.000 2 1999 2017
dbSNP: rs777593389
rs777593389
VPS13B
3 1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057518980
rs1057518980
KIF11
3 0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs149595793
rs149595793
DLG3
3 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
dbSNP: rs1553856553
rs1553856553
TP63
3 0.925 0.200 3 189864391 missense variant C/T snv 0.700 0
dbSNP: rs1554034812
rs1554034812
NIPBL
3 0.925 0.240 5 37058938 frameshift variant G/- delins 0.700 0
dbSNP: rs372292910
rs372292910
PCDHB4
3 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 0.700 0