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: rs386833498
rs386833498
SLC26A2
5 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
dbSNP: rs386833500
rs386833500
SLC26A2
1 1.000 0.120 5 149981576 frameshift variant A/- del 0.700 0
dbSNP: rs386833501
rs386833501
SLC26A2
1 1.000 0.120 5 149981713 frameshift variant TT/- del 0.700 0
dbSNP: rs386833502
rs386833502
SLC26A2
1 1.000 0.120 5 149977906 frameshift variant C/- delins 0.700 0
dbSNP: rs386833503
rs386833503
SLC26A2
1 1.000 0.120 5 149977983 missense variant G/T snv 0.700 0
dbSNP: rs386833505
rs386833505
SLC26A2
1 1.000 0.120 5 149977699 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs386833506
rs386833506
SLC26A2
1 1.000 0.120 5 149978148 missense variant G/A snv 0.700 0
dbSNP: rs386833507
rs386833507
SLC26A2
2 1.000 0.120 5 149977707 stop gained G/T snv 0.700 0
dbSNP: rs386833508
rs386833508
SLC26A2
1 1.000 0.120 5 149980296 frameshift variant GATGGGC/- delins 0.700 0
dbSNP: rs386833509
rs386833509
SLC26A2
1 1.000 0.120 5 149980496 frameshift variant CT/- delins 0.700 0
dbSNP: rs751375244
rs751375244
TRAPPC3
6 0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0
dbSNP: rs762137330
rs762137330
SLC26A2
4 0.851 0.120 5 149981575 frameshift variant C/- del 8.0E-06 0.700 0
dbSNP: rs764109067
rs764109067
ARL13B
6 0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs786205636
rs786205636
BBS5
7 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
8 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
dbSNP: rs886039797
rs886039797
BBS2
7 0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs886039808
rs886039808
CEP290
5 0.851 0.480 12 88083848 stop gained C/T snv 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
5 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
dbSNP: rs886039812
rs886039812
DYNC2H1
7 0.882 0.160 11 103155395 missense variant T/G snv 0.700 0
dbSNP: rs886039814
rs886039814
WDR19
13 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
dbSNP: rs766836061
rs766836061
SLC26A2
5 0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 1996 1996
dbSNP: rs786200881
rs786200881
SLC26A2
4 0.851 0.120 5 149978041 frameshift variant C/- delins 0.700 1.000 1 1996 1996