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: rs587777175
rs587777175
TFG
2 0.925 0.080 3 100728759 missense variant C/T snv 4.0E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs886037832
rs886037832
TWNK ; MRPL43
9 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs374997012
rs374997012
TWNK ; MRPL43
9 0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs284489
rs284489
ZFPM2
3 0.882 0.080 8 104945792 intron variant A/G snv 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1555303073
rs1555303073
COL4A1
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs1184021143
rs1184021143
SLC25A46
2 0.925 0.080 5 110761295 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs746681765
rs746681765
SLC25A46
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017
dbSNP: rs139194636
rs139194636
WARS2
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 0.700 0
dbSNP: rs757600616
rs757600616
WARS2
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs34757931
rs34757931
VPS11
26 0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 0.700 0
dbSNP: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
dbSNP: rs1020764190
rs1020764190
AFG3L2
2 0.925 0.120 18 12351330 missense variant G/A snv 0.700 0
dbSNP: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs1057517686
rs1057517686
ATAD3A
7 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs151103940
rs151103940
OPA1
3 0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs104893753
rs104893753
OPA1
2 0.925 0.080 3 193643005 stop gained C/T snv 0.010 1.000 1 2003 2003
dbSNP: rs1231502335
rs1231502335
OPA1
1 1.000 0.080 3 193643579 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2003 2011
dbSNP: rs1177373525
rs1177373525
OPA1 ; LOC102724808
2 0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2012 2012
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
10 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0