Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1563764078
VLDLR
1.000 0.160 9 2648349 splice donor variant T/C snv 2
rs1567800920
RPGRIP1L
1.000 0.280 16 53619047 stop gained C/T snv 2
rs1568018697
RAC3
17 82032437 missense variant C/T snv 2
rs1568018920
RAC3
17 82032785 missense variant A/T snv 2
rs200618384
PRUNE1
1.000 1 151024795 stop gained G/C;T snv 2
rs561598805
CEP290
1.000 0.200 12 88071860 stop gained G/A;T snv 2.1E-05; 5.5E-05 2
rs672601372
RARS1
0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05 2
rs72547568
ALDH3A2
1.000 0.120 17 19657797 missense variant G/A snv 4.0E-06 2.1E-05 2
rs752059006
SACS
1.000 0.160 13 23353788 stop gained G/A;C snv 1.6E-05; 1.2E-05 2
rs761815070
PLA2G6
1.000 0.040 22 38129453 splice donor variant C/A;T snv 1.2E-05; 4.0E-06 2
rs767769359
PRUNE1
1.000 1 151024658 missense variant G/A;C;T snv 2.0E-05; 8.0E-06 2
rs769369302
VARS1
1.000 6 31779723 missense variant C/T snv 4.1E-06 2.1E-05 2
rs772050241
ASPM
1.000 0.120 1 197104402 stop gained G/A snv 2.0E-05 1.4E-05 2
rs773618224
PRUNE1
1.000 1 151018650 missense variant G/A snv 5.2E-05 2.8E-05 2
rs773850151
FBXL4
1.000 6 98899353 missense variant C/G;T snv 8.0E-06 2
rs80338707
LOC100130283 ; PMM2
0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06 2
rs80338853
DHCR7
1.000 0.080 11 71444036 missense variant G/A snv 4.0E-05 9.1E-05 2
rs886037931
PYCR2
1.000 1 225921209 stop gained G/A snv 8.0E-06 2
rs886040995
CHD7
1.000 0.080 8 60852682 stop gained C/T snv 2
rs972221242
TMEM237
1.000 2 201632186 stop gained G/A snv 4.0E-06 2
rs1060499736
SMARCA1
X 129523364 stop gained G/A snv 1
rs1060499742
ANK3
10 60071229 missense variant G/A snv 1
rs1060499743
ARHGAP21
10 24596030 missense variant A/C snv 1
rs1060499745
CDK10
16 89694721 missense variant C/G;T snv 5.1E-06 1
rs1060499746
GTF3C1
16 27481179 missense variant C/G;T snv 4.0E-06 1