Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606959
rs267606959
POLG
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs398122394
rs398122394
ALG13
17 0.763 0.240 X 111685040 missense variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1114167297
rs1114167297
KIF5B
5 0.851 0.160 10 32019912 missense variant T/C snv 0.700 0
dbSNP: rs1114167298
rs1114167298
GRM7
5 0.882 0.120 3 6861849 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1114167300
rs1114167300
GRM7
6 0.925 0.040 3 7578878 missense variant C/T snv 0.700 0
dbSNP: rs1114167301
rs1114167301
GRM7
6 0.925 0.040 3 7578930 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs138076291
rs138076291
PTPN23
2 0.925 0.040 3 47410284 missense variant C/T snv 8.4E-06 1.4E-05 0.700 0
dbSNP: rs147293860
rs147293860
PTPN23
2 0.925 0.040 3 47409268 missense variant A/C;G snv 4.0E-06; 8.0E-05 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs150712932
rs150712932
PTPN23
2 0.925 0.040 3 47408451 missense variant C/T snv 1.4E-04 1.6E-04 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs35135520
rs35135520
TIMM50
12 0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 0.700 0
dbSNP: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs375817528
rs375817528
CAPN1
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs550492993
rs550492993
ST7 ; ST7-AS2
3 0.925 0.040 7 117130530 stop gained T/C;G snv 8.0E-06 0.700 0
dbSNP: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs577689618
rs577689618
PTPN23
2 0.925 0.040 3 47406548 missense variant G/A;T snv 3.6E-05; 8.0E-06 0.700 0
dbSNP: rs730882215
rs730882215
WWOX
4 0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs730882229
rs730882229
PTPN23
3 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0
dbSNP: rs770692989
rs770692989
PTPN23
2 0.925 0.040 3 47410545 missense variant A/G snv 3.4E-05 3.7E-05 0.700 0
dbSNP: rs774843232
rs774843232
PGAP2
9 0.851 0.080 11 3825024 missense variant G/A;C;T snv 8.0E-06; 3.6E-05; 1.2E-05 0.700 0
dbSNP: rs776019250
rs776019250
TIMM50
12 0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0