Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1562005199
ADGRB3
6 69382853 missense variant G/A snv 1
rs1562137453
ADGRB3
6 69049307 missense variant T/C snv 1
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv 8
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins 8
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs1567280099
ANKS3
16 4697038 frameshift variant -/G delins 1
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 28
rs1555661648
AQP4 ; AQP4-AS1
0.882 0.240 18 26862297 missense variant C/G snv 6
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1568383758
BRD4
19 15255488 missense variant C/A snv 1
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05 7
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05 7
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06 7
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 7
rs121908216
CACNA1A
0.882 0.200 19 13235702 missense variant C/T snv 7