Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv 8
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918461
PTPN11
0.827 0.240 12 112450362 missense variant A/C;G;T snv 8
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv 12
rs1230432769
OTUD5 ; KCND1
X 48962751 missense variant G/A snv 2.9E-05 1
rs1251713297
PRMT7
0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 15
rs1259852690
FBRS
16 30669598 missense variant C/G snv 4.2E-06 2.8E-05 1
rs1297383239
POLR2E
19 1091909 splice acceptor variant T/C snv 4.0E-06 1
rs1333906033
ZBED4 ; ALG12
22 49883834 stop gained C/T snv 4.0E-06 1
rs1339616347
WRN
0.925 0.120 8 31068328 splice donor variant G/T snv 6
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs1363884891
CEP76 ; PSMG2
18 12673471 missense variant C/T snv 7.0E-06 1
rs137852552
SHOX
1.000 0.080 Y 641037 stop gained C/A;T snv 2
rs137852814
SOS1
0.752 0.240 2 39022774 missense variant T/A;C snv 4.0E-06 16
rs137853883
FKBP10
0.882 0.120 17 41819307 frameshift variant C/-;CC delins 5
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs137854544
CTSA
0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 10
rs138249161
POLR3B
0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 8
rs139632595
EXOSC9
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04 19
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs141844660
USP45 ; TSTD3
6 99443648 stop gained C/A snv 1.3E-04 1.2E-04 1
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1430282035
MYH7B
20 34996388 missense variant G/A snv 8.3E-06 1