Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs527656756
MTA3 ; HAAO
0.716 0.400 2 42770143 frameshift variant -/A delins 1.7E-05 1.4E-05 21
rs797044523
LOC105372797 ; DYRK1A
0.882 21 37480756 frameshift variant -/A delins 9
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1085308050
PTEN
0.827 0.160 10 87933178 frameshift variant -/A delins 7
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins 5
rs1057518853
RPS6KA3
0.882 0.120 X 20161641 splice donor variant -/A delins 3
rs886039778
SON
0.925 0.120 21 33552303 frameshift variant -/A delins 3
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1555268712
GNPTAB
0.882 0.160 12 101757459 coding sequence variant -/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA delins 3
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1085307139
SCRIB ; PUF60
0.925 0.040 8 143817380 frameshift variant -/C delins 5
rs1557607997
MMACHC
0.925 0.160 1 45508296 frameshift variant -/C delins 4
rs730882200
ARFGEF2
0.882 0.040 20 48953604 frameshift variant -/C delins 3
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
rs1567721991
PRMT7
0.882 0.080 16 68347257 frameshift variant -/GCTCTCCG delins 9
rs730882224
PNKP
0.882 0.120 19 49861818 frameshift variant -/GTCGATGGCGACCCGTT delins 3
rs1567815105
ADGRG1
0.807 0.240 16 57660794 frameshift variant -/T delins 7
rs730882198
SPART
0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 6
rs1085308052
PTEN
0.851 0.160 10 87952144 frameshift variant -/T delins 5
rs1564351388
STXBP1
0.882 0.080 9 127666193 frameshift variant -/T delins 4
rs730882227
OCLN
0.925 0.120 5 69509603 frameshift variant -/T delins 3
rs775835429
SLC19A3
0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 4