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: rs74315432
rs74315432
VSX1
2 0.925 0.040 20 25079443 missense variant G/A;T snv 2.0E-05; 3.6E-05 0.800 1.000 6 2002 2011
dbSNP: rs576300014
rs576300014
VSX1
1 1.000 0.040 20 25077753 missense variant G/A;C snv 6.5E-06; 4.9E-04 0.700 1.000 6 2002 2011
dbSNP: rs74315433
rs74315433
VSX1
3 0.882 0.080 20 25079460 missense variant C/A;T snv 1.0E-03; 1.9E-03 0.700 1.000 6 2002 2011
dbSNP: rs74315434
rs74315434
VSX1
2 0.925 0.040 20 25079464 missense variant A/G;T snv 4.0E-06; 4.8E-05 0.700 1.000 6 2002 2011
dbSNP: rs74315436
rs74315436
VSX1
1 1.000 0.040 20 25082047 missense variant A/G snv 1.3E-04 1.3E-04 0.700 1.000 6 2002 2011
dbSNP: rs148957473
rs148957473
VSX1
5 0.827 0.160 20 25077762 missense variant T/C;G snv 2.7E-03 0.700 0
dbSNP: rs273585616
rs273585616
ZNF469 ; LOC112268182
1 1.000 0.040 16 88427547 missense variant G/C snv 0.700 0
dbSNP: rs273585617
rs273585617
ZNF469 ; LOC112268182
1 1.000 0.040 16 88427760 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs273585618
rs273585618
ZNF469 ; LOC112268182
1 1.000 0.040 16 88430169 missense variant C/G;T snv 9.0E-04 0.700 0
dbSNP: rs273585619
rs273585619
ZNF469 ; LOC112268182
1 1.000 0.040 16 88430589 missense variant A/C snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs273585620
rs273585620
ZNF469 ; LOC112268182
1 1.000 0.040 16 88431917 missense variant G/A;T snv 3.3E-05; 6.5E-06 0.700 0
dbSNP: rs273585623
rs273585623
ZNF469
1 1.000 0.040 16 88433649 missense variant C/A;T snv 7.3E-04; 6.7E-06 0.700 0
dbSNP: rs273585624
rs273585624
ZNF469
1 1.000 0.040 16 88434279 missense variant C/A snv 5.2E-05 9.8E-05 0.700 0
dbSNP: rs273585625
rs273585625
ZNF469
1 1.000 0.040 16 88436466 missense variant G/T snv 9.6E-05 3.3E-04 0.700 0
dbSNP: rs273585629
rs273585629
ZNF469
1 1.000 0.040 16 88438655 missense variant G/A snv 7.4E-05 9.1E-05 0.700 0
dbSNP: rs273585630
rs273585630
ZNF469
1 1.000 0.040 16 88439169 missense variant C/G;T snv 6.5E-06 0.700 0
dbSNP: rs273585631
rs273585631
ZNF469 ; LOC112268182
1 1.000 0.040 16 88427569 synonymous variant G/A snv 3.0E-05 2.1E-05 0.700 0
dbSNP: rs273585632
rs273585632
ZNF469 ; LOC112268182
1 1.000 0.040 16 88428190 missense variant G/A;C snv 0.700 0
dbSNP: rs273585634
rs273585634
ZNF469 ; LOC112268182
1 1.000 0.040 16 88429948 synonymous variant G/A;T snv 1.3E-05; 1.3E-05 0.700 0
dbSNP: rs273585637
rs273585637
ZNF469
1 1.000 0.040 16 88438397 missense variant C/A;T snv 6.8E-06 0.700 0
dbSNP: rs281865144
rs281865144
ZNF469 ; LOC112268182
1 1.000 0.040 16 88427807 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs281865146
rs281865146
ZNF469 ; LOC112268182
1 1.000 0.040 16 88429533 missense variant C/A snv 2.0E-05 4.2E-05 0.700 0
dbSNP: rs281865147
rs281865147
ZNF469 ; LOC112268182
1 1.000 0.040 16 88430365 inframe insertion GTCGGG/-;GTCGGGGTCGGG delins 4.9E-05 0.700 0
dbSNP: rs281865149
rs281865149
ZNF469
1 1.000 0.040 16 88432614 missense variant G/A snv 1.4E-04 1.7E-04 0.700 0
dbSNP: rs281865150
rs281865150
ZNF469
1 1.000 0.040 16 88433151 missense variant A/T snv 0.700 0