Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs758026634
MRPL43 ; TWNK
0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05 1
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1060499549
ZNF462
0.882 0.120 9 106927699 stop gained C/T snv 4
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 27
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 46
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv 14
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs77543610
FGFR2
0.667 0.560 10 121520160 missense variant G/C snv 12
rs79184941
FGFR2
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 18
rs121913378
BRAF
0.776 0.280 7 140753337 missense variant C/A;G;T snv 6
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 32
rs1554642022
PUF60 ; SCRIB
0.851 0.200 8 143816981 stop gained G/A snv 8
rs1554768245
SYNE1
0.807 0.160 6 152472395 frameshift variant C/- delins 16
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs1554442015
TWIST1
0.851 0.120 7 19116970 missense variant G/C snv 5
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03 7
rs886041094
UNC80
0.807 0.200 2 209941379 missense variant G/A snv 1.9E-05 2.1E-05 7
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs587776917
ECEL1
0.776 0.200 2 232485937 stop gained -/T delins 13
rs1057518958
CHRND
1.000 0.040 2 232531353 frameshift variant T/- del 4