Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs1555043939
KMT2A
0.851 0.240 11 118496323 frameshift variant -/G delins 9
rs78300695
TREX1 ; ATRIP-TREX1 ; ATRIP
0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 8
rs1561498701
SMN1 ; SMN2
1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 5
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1554558365
TMEM67
0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 4
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1555497604
COG7
0.851 0.240 16 23452993 start lost A/G snv 10
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 4
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 7
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 15
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5