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: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039804
rs886039804
TMEM138
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2020 2020
dbSNP: rs1057518952
rs1057518952
PKHD1
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs137852944
rs137852944
PKHD1
5 0.925 0.240 6 52083201 missense variant G/A snv 4.5E-04 4.7E-04 0.700 0
dbSNP: rs181208607
rs181208607
PKHD1
2 1.000 0.120 6 51847966 stop gained G/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs754392766
rs754392766
PKHD1
2 1.000 0.120 6 52058355 stop gained G/A;C snv 0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
dbSNP: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1057518906
rs1057518906
PKD2
1 4 88007878 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1057518969
rs1057518969
PKD2
3 4 88036325 frameshift variant CT/- delins 0.700 0
dbSNP: rs1553927823
rs1553927823
PKD2
3 0.925 0.240 4 88065804 frameshift variant TACG/- delins 0.700 0
dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs1057518959
rs1057518959
PKD1 ; MIR1225 ; LOC105371049
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1555444249
rs1555444249
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090140 frameshift variant T/- del 0.700 0
dbSNP: rs1555446033
rs1555446033
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2092144 frameshift variant C/- delins 0.700 0
dbSNP: rs777269070
rs777269070
PKD1 ; MIR1225 ; LOC105371049
1 16 2090777 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs886040959
rs886040959
PKD1 ; MIR1225 ; LOC105371049
2 1.000 0.120 16 2090962 frameshift variant AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT delins 0.700 0
dbSNP: rs1567155145
rs1567155145
PKD1 ; LOC105371049
1 16 2092534 stop gained G/A snv 0.700 0
dbSNP: rs1567159074
rs1567159074
PKD1 ; LOC105371049
1 16 2094014 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057518783
rs1057518783
PKD1
1 16 2110081 stop gained G/A snv 0.700 0
dbSNP: rs1057518899
rs1057518899
PKD1
2 16 2111647 stop gained G/A snv 0.700 0
dbSNP: rs1057518976
rs1057518976
PKD1
3 1.000 0.120 16 2111382 missense variant T/C snv 0.700 0