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: rs4886238
rs4886238
TDRD3
1 13 60539605 intron variant G/A;T snv 0.800 1.000 2 2012 2015
dbSNP: rs1054875
rs1054875
POLG
1 15 89335895 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs112869704
rs112869704
UQCRH
1 1 46314613 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11650324
rs11650324
RPAIN
1 17 5426866 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11786868
rs11786868
ZFHX4
1 8 76741709 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs117876865
rs117876865 		1 21 34444399 downstream gene variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs12503643
rs12503643
ACSL1 ; LOC105377587
2 1.000 0.040 4 184824934 intron variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1727326
rs1727326
PITPNM2
1 12 123115539 intron variant C/A;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1815198
rs1815198
MSI2
1 17 57283224 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1837988
rs1837988
DDX17
1 22 38505089 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs200296776
rs200296776
ZCCHC2
1 18 62570172 missense variant C/T snv 6.1E-05 0.700 1.000 1 2018 2018
dbSNP: rs2304192
rs2304192
NMRK2
1 19 3933316 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2519673
rs2519673 		1 7 106354280 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs28416520
rs28416520
PIWIL1
1 12 130339112 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs28807105
rs28807105
EIF4EBP1
1 8 38035999 intron variant G/A;C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs299163
rs299163
NLRP11
1 19 55810048 missense variant C/A;T snv 0.96 0.700 1.000 1 2019 2019
dbSNP: rs314277
rs314277
LIN28B
6 0.925 0.080 6 104959787 intron variant A/C;G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs3736830
rs3736830
KPNA3
1 13 49732085 intron variant G/C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs4782369
rs4782369
ZFPM1
1 16 88465453 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs4879656
rs4879656
APTX
1 9 33012384 intron variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs494620
rs494620
CYP21A2 ; SLC44A4
3 0.925 0.120 6 31870936 stop gained G/A;T snv 0.44; 4.1E-06 0.800 1.000 1 2009 2009
dbSNP: rs551087
rs551087
SPPL3
1 12 120771390 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs56283750
rs56283750
VPS9D1 ; ZNF276
1 16 89720353 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs58387006
rs58387006
BIRC6
1 2 32354931 upstream gene variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6185
rs6185
GNRH1
1 8 25423284 missense variant C/A;G snv 4.0E-06; 0.23 0.700 1.000 1 2018 2018