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: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
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: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs12877501
rs12877501
COL4A2
4 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 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: rs1555303073
rs1555303073
COL4A1
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs398124401
rs398124401
SRD5A3
26 0.695 0.480 4 55346393 stop gained G/A snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs75184679
rs75184679
RNASEH2B
16 0.776 0.360 13 50945445 missense variant G/A snv 1.4E-03 1.4E-03 0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs869312878
rs869312878
AUTS2
3 0.882 0.160 7 70766130 frameshift variant -/C delins 0.700 0
dbSNP: rs1057523820
rs1057523820
CASK
1 1.000 0.120 X 41553740 missense variant G/A snv 0.010 1.000 1 2019 2019