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: rs1003624852
rs1003624852
CYC1
1 8 144096675 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2015 2015
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: rs1365700579
rs1365700579
YARS2
1 12 32750105 missense variant C/G;T snv 8.0E-06 0.700 1.000 1 2017 2017
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: rs1553877864
rs1553877864
OPA1
1 3 193643430 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554042187
rs1554042187
GFM2
1 5 74758878 missense variant T/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: rs1554887222
rs1554887222
TWNK
1 10 100989791 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1566433812
rs1566433812
OXA1L ; LOC105370404
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
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: rs200944917
rs200944917
TOP3A
1 17 18305208 stop gained G/A;T snv 1.0E-04 0.700 1.000 1 2018 2018
dbSNP: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs28937887
rs28937887
TWNK ; MRPL43
2 1.000 10 100989211 missense variant G/A;T snv 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: rs370475970
rs370475970
GFER ; NOXO1
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs370863743
rs370863743
RMND1
1 6 151436526 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2016 2016
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: rs387906899
rs387906899
OPA1
2 1.000 3 193643609 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs387907087
rs387907087
FOXRED1
3 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2010 2010
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
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: rs542343726
rs542343726
BRCA2
1 13 32332532 missense variant T/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs746538436
rs746538436
GFM2
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs753829320
rs753829320
MFF
2 1.000 2 227355756 stop gained C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs761283105
rs761283105
GFM2
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017