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: rs111344408
rs111344408
1 1.000 0.040 1 201363407 splice acceptor variant C/A;G snv 0.700 0
dbSNP: rs1131691655
rs1131691655
1 1.000 0.040 2 178609769 stop gained G/C snv 0.700 0
dbSNP: rs121909374
rs121909374
7 0.790 0.120 11 47342578 stop gained C/A;G snv 1.3E-05 0.700 0
dbSNP: rs1263987728
rs1263987728
1 1.000 0.040 14 23404296 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1417036453
rs1417036453
2 0.925 0.080 3 38603999 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1553692290
rs1553692290
1 1.000 0.040 2 178609842 stop gained C/T snv 0.700 0
dbSNP: rs267607004
rs267607004
4 0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 0.700 0
dbSNP: rs267607560
rs267607560
2 0.925 0.040 1 156115192 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs3218716
rs3218716
17 0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs371678190
rs371678190
3 1.000 0.040 2 178578066 stop gained G/A;T snv 4.0E-06; 5.6E-05 0.700 0
dbSNP: rs397516059
rs397516059
5 0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06 0.700 0
dbSNP: rs397516165
rs397516165
4 0.925 0.080 14 23424118 missense variant C/G;T snv 0.700 0
dbSNP: rs397516465
rs397516465
1 1.000 0.040 1 201364342 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs397517689
rs397517689
5 0.882 0.160 2 178574530 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs57730570
rs57730570
1 1.000 0.040 1 156137118 stop gained G/A;T snv 0.700 0
dbSNP: rs61094188
rs61094188
2 0.925 0.160 1 156136257 missense variant C/A;T snv 7.6E-05 0.700 0
dbSNP: rs72648250
rs72648250
4 0.882 0.160 2 178548460 stop gained G/A;T snv 4.0E-06; 8.1E-06 0.700 0
dbSNP: rs727503533
rs727503533
1 1.000 0.040 2 178531665 frameshift variant C/- del 0.700 0
dbSNP: rs727503607
rs727503607
4 0.882 0.160 2 178605642 stop gained C/A snv 0.700 0
dbSNP: rs727504237
rs727504237
3 0.882 0.080 14 23428529 missense variant G/T snv 0.700 0
dbSNP: rs727504488
rs727504488
1 1.000 0.040 1 201361305 missense variant C/T snv 0.700 0
dbSNP: rs727504801
rs727504801
3 0.925 0.080 3 38560397 frameshift variant G/- delins 0.700 0
dbSNP: rs727504856
rs727504856
2 1.000 0.040 2 178559330 frameshift variant CTTT/- del 0.700 0
dbSNP: rs730880365
rs730880365
3 1.000 0.040 2 178549998 frameshift variant -/T delins 8.1E-06 0.700 0
dbSNP: rs730880603
rs730880603
2 0.925 0.080 11 47332115 missense variant G/T snv 0.700 0