Source: CURATED ×
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: rs118203478
rs118203478
TSC1
5 0.882 0.200 9 132911492 frameshift variant -/A;AA delins 0.700 0
dbSNP: rs137852832
rs137852832
CEP290
17 0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 0.700 0
dbSNP: rs137852834
rs137852834
CEP290
12 0.763 0.280 12 88083936 stop gained T/A snv 5.5E-05 9.1E-05 0.700 0
dbSNP: rs1553948516
rs1553948516
SCARB2
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs1555487316
rs1555487316
UMOD
5 0.882 0.240 16 20348247 missense variant A/C snv 0.700 0
dbSNP: rs1567202189
rs1567202189
PKD1
2 1.000 0.080 16 2111276 inframe insertion -/GTG ins 0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs530391015
rs530391015
INF2
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs771454167
rs771454167
CEP290
6 0.827 0.240 12 88062772 frameshift variant C/- del 4.7E-05; 5.2E-06 2.1E-05 0.700 0
dbSNP: rs886039813
rs886039813
OFD1
8 0.827 0.160 X 13756600 frameshift variant C/- delins 0.700 0