Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs113993993
SBDS
0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 9
rs730882219
GEMIN4
0.882 0.200 17 745591 missense variant A/C;G snv 4.1E-06; 1.2E-05 4
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs759191907
LOC105379841 ; ENG
0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 25
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs387906702
SMC1A
0.807 0.200 X 53403635 missense variant A/G snv 16
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10
rs1131692230
PDHA1
0.807 0.160 X 19353124 missense variant A/G snv 9
rs886041045
SMARCA2
1.000 0.280 9 2086854 missense variant A/G snv 5
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs797044524
LOC105372797 ; DYRK1A
0.925 21 37486513 missense variant A/T snv 9
rs1060499759
ATRX
1.000 X 77688879 missense variant A/T snv 2
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs797044522
DYRK1A
0.925 21 37496119 frameshift variant AGAT/- delins 9
rs1057518980
KIF11
0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 3
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs1555524354
TP53
0.925 0.080 17 7670626 frameshift variant C/- delins 5