Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs766413410
AGK
0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 4
rs777096695
AGK
1.000 0.080 7 141611288 splice donor variant G/A;T snv 4.1E-06 3
rs121918608
AHCY
1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 3
rs778127154
ALDH5A1
1.000 0.120 6 24515259 frameshift variant T/- del 5.6E-05 4
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1553245943
ATP1A2
1.000 0.080 1 160137001 missense variant G/A snv 2
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 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
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 3
rs778431173
BBS10
12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 1
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
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
rs80359636
BRCA2
0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 7
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs1555440555
CHD2
1.000 15 92953386 missense variant T/C snv 2
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1556220623
CUL4B
1.000 X 120547191 stop gained G/A snv 2
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3