Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs606231435
ATP1A3
0.827 0.240 19 41970539 missense variant C/T snv 18
rs80356537
ATP1A3
0.752 0.320 19 41970405 missense variant C/A;G;T snv 17
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv 3
rs797044897
ATP1A3
19 41984940 missense variant T/C snv 1
rs782596945
ATP2B3
0.851 0.120 X 153580229 missense variant G/A;T snv 5.5E-06 8
rs1557196978
ATP6AP1
0.851 0.120 X 154432444 missense variant T/G snv 8
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1156904586
ATP8A2
1.000 13 25577115 frameshift variant -/T delins 1.4E-05 3
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs757347274
B3GALNT2
0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05 3
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs768933093
BBS10
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 10
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs1553352926
BCL11A
0.925 2 60545969 splice donor variant A/G snv 3
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1554931219
BDNF ; BDNF-AS
11 27658063 stop gained C/A snv 2
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv 20
rs180177040
BRAF
0.790 0.360 7 140754187 missense variant T/C;G snv 9
rs180177042
BRAF
0.807 0.280 7 140749365 missense variant A/C;T snv 8
rs180177041
BRAF
0.851 0.240 7 140777006 missense variant C/G snv 5
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv 5
rs397516893
BRAF
0.925 0.160 7 140778048 missense variant A/C snv 3
rs80359541
BRCA2
0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 6