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: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs137854889
rs137854889
ZMPSTE24
31 0.742 0.440 1 40290871 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs1559720382
rs1559720382
SETD2
2 1.000 3 47101476 missense variant T/C snv 0.700 0
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs121912708
rs121912708
ALDH7A1
3 1.000 0.040 5 126583997 stop gained G/A;C snv 6.0E-05; 4.0E-06 0.700 0
dbSNP: rs140845195
rs140845195
ALDH7A1
3 1.000 0.040 5 126545020 splice acceptor variant C/A;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554603293
rs1554603293
CHD7
17 0.752 0.320 8 60849154 missense variant G/A snv 0.700 0
dbSNP: rs797045412
rs797045412
BICD2
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1085308053
rs1085308053
PTEN
5 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs564185858
rs564185858
ADD3
4 0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs1565977796
rs1565977796
CDK8
7 0.882 0.120 13 26337623 stop gained C/A snv 0.700 0
dbSNP: rs1567053134
rs1567053134
CYP11A1
8 0.925 0.040 15 74345160 frameshift variant AG/- del 0.700 0
dbSNP: rs758361736
rs758361736
KIF7
16 0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs542652468
rs542652468
ATP1A3
6 0.882 19 41986177 missense variant G/A;T snv 0.700 0