Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs143814221
GHR
0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 8
rs768823392
SPG7
0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 10
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 6
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs55819519
TP53
0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 1
rs137939966
MYOCD
17 12752540 missense variant A/G snv 1.6E-04 8.4E-04 2
rs376103091
EARS2
0.851 0.200 16 23544677 missense variant G/A snv 1.5E-04 2.0E-04 10
rs113994098
POLG
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 10
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs762425351
CRAT
0.925 0.200 9 129095573 missense variant C/T snv 1.2E-04 7.7E-05 7
rs139073416
PIGV
0.882 0.240 1 26795056 missense variant C/A;T snv 1.2E-04 9
rs370243877
SP2-AS1 ; PNPO
1.000 0.160 17 47941773 missense variant A/T snv 1.1E-04 1.3E-04 1
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs141554661
LRRC37A2 ; GOSR2
0.925 0.040 17 46932200 splice donor variant G/A snv 1.0E-04 2.6E-04 3
rs121908686
PLA2G6 ; BAIAP2L2
0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05 5
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs74315511
NCAPH2 ; SCO2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04 4
rs398122967
TBC1D24
0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 12
rs372949028
TANGO2
0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 13
rs372392424
PIGG
0.882 0.240 4 523849 missense variant C/T snv 6.7E-05 7.7E-05 8
rs527624522
EXT2
0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 5
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 9
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7