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: rs1060499938
rs1060499938
NPHP3 ; NPHP3-ACAD11
2 0.925 0.080 3 132683487 frameshift variant G/- del 0.700 0
dbSNP: rs1210874691
rs1210874691
NPHP4
1 1.000 0.080 1 5927733 stop gained C/A snv 2.1E-05 0.700 0
dbSNP: rs121907898
rs121907898
NPHP1
2 0.925 0.080 2 110201484 stop gained A/C;T snv 4.0E-06 0.700 0
dbSNP: rs121907899
rs121907899
NPHP1
2 0.925 0.080 2 110163048 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.700 0
dbSNP: rs121918244
rs121918244
IQCB1
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0
dbSNP: rs1278679056
rs1278679056
CEP290
3 0.882 0.200 12 88120162 stop gained T/A snv 7.0E-06 0.700 0
dbSNP: rs1425211517
rs1425211517
INVS
1 1.000 0.080 9 100297017 stop gained C/T snv 0.700 0
dbSNP: rs150001738
rs150001738
INVS
1 1.000 0.080 9 100284591 stop gained A/G;T snv 3.1E-04 3.3E-04 0.700 0
dbSNP: rs150681845
rs150681845
INTU
2 1.000 0.080 4 127687772 missense variant G/A snv 2.6E-03 1.8E-03 0.700 0
dbSNP: rs1553506530
rs1553506530
TTC21B
2 0.925 0.200 2 165888354 frameshift variant TA/- delins 0.700 0
dbSNP: rs1553773271
rs1553773271
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132699352 splice donor variant C/T snv 0.700 0
dbSNP: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs1555201796
rs1555201796
CEP290
3 0.882 0.200 12 88071370 frameshift variant CTCGT/- del 0.700 0
dbSNP: rs1555205328
rs1555205328
CEP290
3 0.882 0.200 12 88080196 stop gained C/A snv 0.700 0
dbSNP: rs1555212150
rs1555212150
CEP290
3 0.882 0.200 12 88093873 stop gained TC/CA mnv 0.700 0
dbSNP: rs1560000875
rs1560000875
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132686280 stop gained G/C snv 0.700 0
dbSNP: rs1560002147
rs1560002147
NPHP3 ; NPHP3-ACAD11
1 1.000 0.080 3 132688818 frameshift variant -/G delins 0.700 0
dbSNP: rs1560017690
rs1560017690
NPHP3 ; NPHP3-AS1 ; NPHP3-ACAD11
1 1.000 0.080 3 132719814 frameshift variant T/- del 0.700 0
dbSNP: rs1564123602
rs1564123602
INVS
1 1.000 0.080 9 100126450 frameshift variant -/CAGA delins 0.700 0
dbSNP: rs1565329461
rs1565329461
DYNC2H1
9 0.851 0.200 11 103135949 splice donor variant G/A snv 0.700 0
dbSNP: rs1565822519
rs1565822519
CEP290
3 0.882 0.200 12 88077770 frameshift variant -/T delins 0.700 0
dbSNP: rs182135982
rs182135982
NPHP3 ; NPHP3-ACAD11
4 0.851 0.240 3 132699988 stop gained C/A;T snv 8.0E-06; 5.2E-05 0.700 0
dbSNP: rs373909351
rs373909351
IQCB1
6 0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs387907009
rs387907009
IQCB1
3 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 0
dbSNP: rs398124289
rs398124289
NPHP4
1 1.000 0.080 1 5874973 frameshift variant -/GAGCG delins 1.2E-05 0.700 0