Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs387907141
ARID1B
0.752 0.360 6 157181137 stop gained C/T snv 24
rs113488022
BRAF
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 22
rs72653706
ABCC6
0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 21
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv 18
rs74799832
RET
0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 17
rs587777630
STAT1
0.716 0.440 2 190986921 missense variant G/A snv 15
rs1057523354
COL4A1
0.763 0.480 13 110179387 missense variant C/A snv 13
rs28939701
ABCC6
0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 12
rs1555570093
MPDU1
0.807 0.280 17 7586699 missense variant G/A snv 12
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs876661024
PTEN
0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 11
rs797044484
TP63
0.776 0.400 3 189868624 missense variant C/G snv 10
rs1057516033
KAT6B
0.807 0.400 10 75025250 splice donor variant G/A snv 9
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 9
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs758865880
KYNU
0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 8
rs770642379
KYNU
0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 8
rs1057518799
POGZ
0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 7
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7