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: rs1057519287
rs1057519287
MECR
3 0.882 0.080 1 29216612 frameshift variant TGAT/- delins 0.700 0
dbSNP: rs1555817157
rs1555817157
ABHD12
16 0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del 0.700 1.000 1 2018 2018
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: rs672601367
rs672601367
KIF1A
7 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
dbSNP: rs1057518927
rs1057518927
OAT
4 0.925 0.080 10 124402952 missense variant T/C snv 0.700 0
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: 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: rs886037832
rs886037832
TWNK ; MRPL43
9 0.851 0.280 10 100988541 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs779027563
rs779027563
CNTNAP1
58 0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2017 2017
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: rs80356529
rs80356529
OPA1
9 0.827 0.240 3 193643996 missense variant G/A;C snv 0.030 1.000 3 2003 2011
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;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: 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: rs74315205
rs74315205
WFS1 ; LOC107986257
7 0.807 0.360 4 6302385 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1020764190
rs1020764190
AFG3L2
2 0.925 0.120 18 12351330 missense variant G/A 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: rs145192716
rs145192716
MECR
3 0.882 0.080 1 29200574 missense variant G/A snv 6.4E-05 6.3E-05 0.700 0
dbSNP: rs387906799
rs387906799
KIF1A
19 0.742 0.200 2 240788118 missense variant G/A snv 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs730882246
rs730882246
NPC2 ; ISCA2
8 0.807 0.200 14 74494329 missense variant G/A snv 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: rs119103265
rs119103265
MFN2
5 0.827 0.120 1 12002033 missense variant C/T snv 0.020 1.000 2 2006 2011
dbSNP: rs104893753
rs104893753
OPA1
2 0.925 0.080 3 193643005 stop gained C/T snv 0.010 1.000 1 2003 2003