Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins 5
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 15
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv 3
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 14
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs793888541
TFAP2A-AS2 ; TFAP2A
0.807 0.120 6 10404631 missense variant A/T snv 7
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins 9
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv 23
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv 8
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv 17
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins 11
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24