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: rs886037773
rs886037773
RMND1
1 6 151405719 splice donor variant C/A;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs752169833
rs752169833
CHCHD2
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2019 2019
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: 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: 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: 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: rs28937887
rs28937887
TWNK ; MRPL43
2 1.000 10 100989211 missense variant G/A;T 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: rs886037835
rs886037835
TMEM126B
2 1.000 11 85635669 frameshift variant A/- delins 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: 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: rs775256289
rs775256289
YARS2
1 12 32750046 inframe insertion -/TGATCAGACATGACCTCC delins 1.6E-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: rs1566433812
rs1566433812
OXA1L ; LOC105370404
1 14 22768050 frameshift variant -/CAGAGCAG delins 0.700 1.000 1 2018 2018
dbSNP: rs571825723
rs571825723
PSEN1
4 0.925 0.080 14 73211867 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs772751581
rs772751581
OXA1L
1 14 22769791 missense variant G/T snv 4.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs113994097
rs113994097
POLG
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.720 1.000 3 2006 2017
dbSNP: rs113994099
rs113994099
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.710 1.000 2 2007 2017
dbSNP: rs2307441
rs2307441
POLG
6 0.882 0.080 15 89318595 missense variant T/C snv 2.9E-02 2.7E-02 0.020 1.000 2 2006 2015
dbSNP: rs1131691575
rs1131691575
POLG ; FANCI
3 0.925 0.080 15 89317469 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2017 2017