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: rs730882246
rs730882246
NPC2 ; ISCA2
8 0.807 0.200 14 74494329 missense variant G/A snv 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: rs756421370
rs756421370
MECR
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 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: rs759218713
rs759218713
MECR
3 0.882 0.080 1 29196235 missense variant T/C snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs762913101
rs762913101
MECR
3 0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 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: 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: rs886041091
rs886041091
NTRK2
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0
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: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
dbSNP: rs387906930
rs387906930
WFS1
8 0.790 0.360 4 6301846 missense variant C/G;T snv 0.020 1.000 2 2010 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: rs104894270
rs104894270
NDUFS3
3 0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2013 2013
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: 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: 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: rs201754030
rs201754030
TSFM
5 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 0.010 1.000 1 2014 2014
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: 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: rs28939714
rs28939714
NDUFS3
3 0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs397514477
rs397514477
C19orf12
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
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: rs74315205
rs74315205
WFS1 ; LOC107986257
7 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2008 2008
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