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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
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: rs1057519286
rs1057519286
MECR
3 0.882 0.080 1 29196234 stop gained A/C;G snv 0.700 0
dbSNP: rs1057519287
rs1057519287
MECR
3 0.882 0.080 1 29216612 frameshift variant TGAT/- delins 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: 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: 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: rs1555303073
rs1555303073
COL4A1
6 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs1555968941
rs1555968941
CACNA1C
31 0.752 0.280 12 2653847 missense variant G/A;C snv 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: 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: rs672601363
rs672601363
KIF1A
6 0.851 0.080 2 240788109 missense variant C/T snv 0.700 0
dbSNP: rs672601366
rs672601366
KIF1A
6 0.851 0.120 2 240786339 missense variant C/G snv 0.700 0
dbSNP: rs672601367
rs672601367
KIF1A
7 0.851 0.080 2 240785066 missense variant T/G snv 0.700 0
dbSNP: rs672601369
rs672601369
KIF1A
10 0.790 0.120 2 240783780 missense variant C/T snv 0.700 0
dbSNP: rs672601370
rs672601370
KIF1A
13 0.790 0.160 2 240775863 missense variant G/A snv 0.700 0
dbSNP: rs672601371
rs672601371
KIF1A
4 0.925 0.080 2 240783791 missense variant A/T snv 0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
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