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: rs1365700579
rs1365700579
YARS2
1 12 32750105 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs775256289
rs775256289
YARS2
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs368849022
rs368849022
TXNRD1
1 12 104327633 synonymous variant T/C snv 1.2E-04 9.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs111033573
rs111033573
TWNK ; MRPL43
2 1.000 0.200 10 100989285 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577
TWNK ; MRPL43
2 1.000 0.200 10 100989352 missense variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887028
rs1554887028
TWNK ; MRPL43
1 10 100989213 missense variant C/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs28937887
rs28937887
TWNK ; MRPL43
2 1.000 10 100989211 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887213
rs1554887213
TWNK
2 1.000 0.200 10 100989774 splice acceptor variant G/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554887222
rs1554887222
TWNK
1 10 100989791 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs199730889
rs199730889
TRMT10C
2 1.000 3 101565323 missense variant G/A;T snv 4.0E-06; 1.1E-04 0.700 1.000 1 2016 2016
dbSNP: rs875989831
rs875989831
TRMT10C
2 1.000 3 101565595 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs200944917
rs200944917
TOP3A
1 17 18305208 stop gained G/A;T snv 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs376902371
rs376902371
TOP3A
2 1.000 17 18308367 missense variant T/C snv 6.4E-05 3.5E-05 0.700 1.000 1 2018 2018
dbSNP: rs886037835
rs886037835
TMEM126B
2 1.000 11 85635669 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs369227537
rs369227537
SPG7
2 1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs797046003
rs797046003
SPG7
2 1.000 0.080 16 89529575 splice donor variant -/T delins 0.700 1.000 1 2017 2017
dbSNP: rs886041081
rs886041081
SLC25A4
4 0.925 4 185144891 missense variant G/A snv 0.700 0
dbSNP: rs886041082
rs886041082
SLC25A4
2 1.000 4 185145863 missense variant C/G snv 0.700 0
dbSNP: rs515726180
rs515726180
RRM2B ; UBR5-AS1
1 8 102238827 splice region variant C/T snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
dbSNP: rs515726199
rs515726199
RRM2B
2 1.000 0.200 8 102208239 frameshift variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs115079861
rs115079861
RMND1
3 1.000 6 151405236 stop lost C/G;T snv 2.0E-05; 4.0E-03 0.700 1.000 1 2016 2016
dbSNP: rs144972972
rs144972972
RMND1
2 1.000 6 151430154 missense variant T/C snv 2.0E-04 2.4E-04 0.700 1.000 1 2016 2016
dbSNP: rs370863743
rs370863743
RMND1
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs397515421
rs397515421
RMND1
2 1.000 6 151405787 missense variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2016 2016