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: rs139073416
rs139073416
PIGV
9 0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
8 0.925 0.080 1 22086507 missense variant T/C snv 0.700 0
dbSNP: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
8 0.925 0.120 1 43431458 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1557612048
rs1557612048
ARID1A
11 0.807 0.200 1 26767868 missense variant T/C snv 0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
6 0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs730882243
rs730882243
KCTD3
3 1.000 0.120 1 215602099 frameshift variant CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA/- del 0.700 0
dbSNP: rs746200792
rs746200792
SZT2
8 0.925 0.120 1 43437254 inframe deletion TGT/- delins 0.700 0
dbSNP: rs757511770
rs757511770
FMN2
9 0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs758432471
rs758432471
GNB1
4 0.925 1 1806513 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs764618040
rs764618040
PHGDH ; LOC105378936
2 1.000 0.040 1 119726868 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs794727870
rs794727870
SLC2A1
3 0.925 0.160 1 42929244 missense variant G/A;T snv 0.700 0
dbSNP: rs869312666
rs869312666
MTOR
4 0.925 0.160 1 11129789 missense variant A/C snv 0.700 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
5 0.882 0.160 1 11144735 missense variant C/T snv 0.700 0
dbSNP: rs869312687
rs869312687
RIT1
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0
dbSNP: rs869312821
rs869312821
GNB1
7 0.882 0.120 1 1806515 missense variant T/C snv 0.700 0
dbSNP: rs878853161
rs878853161
SLC2A1
7 0.851 0.240 1 42929977 frameshift variant AT/- del 0.700 0
dbSNP: rs878853322
rs878853322
PPT1
4 0.925 0.160 1 40078573 missense variant G/A snv 0.700 0
dbSNP: rs878853323
rs878853323
PPT1
4 0.882 0.160 1 40092499 missense variant A/G snv 0.700 0
dbSNP: rs878853324
rs878853324
PPT1
5 0.882 0.160 1 40078579 missense variant A/T snv 0.700 0
dbSNP: rs878853325
rs878853325
PPT1
6 0.851 0.240 1 40089414 frameshift variant C/- delins 0.700 0
dbSNP: rs886041300
rs886041300
KCNH1
3 1.000 0.160 1 210920032 missense variant C/T snv 0.700 0
dbSNP: rs886041874
rs886041874
PHGDH
2 1.000 0.040 1 119721323 splice donor variant T/C snv 4.0E-06 0.700 0