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: rs768180196
rs768180196
DEGS1
1 1.000 0.120 1 224190258 missense variant A/G snv 5.7E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs776679653
rs776679653
ISCA1
11 0.827 0.200 9 86266174 missense variant C/T snv 4.2E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057518843
rs1057518843
GALC
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs1555384318
rs1555384318
GALC
2 0.925 0.120 14 87992971 missense variant C/T snv 0.700 0
dbSNP: rs1561904557
rs1561904557
CSF1R
9 0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 0.700 0
dbSNP: rs371334506
rs371334506
SPG11
5 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs377274761
rs377274761
GALC
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs377510027
rs377510027
DARS1
6 0.827 0.240 2 135911447 missense variant A/G snv 1.2E-05 0.700 0
dbSNP: rs727503786
rs727503786
ABCD1
6 0.827 0.280 X 153736231 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs730882248
rs730882248
RNF216 ; MIR6874
2 0.925 0.160 7 5711761 splice region variant C/T snv 0.700 0
dbSNP: rs74315475
rs74315475
ARSA
4 0.851 0.120 22 50626033 missense variant T/A snv 3.4E-05 6.3E-05 0.700 0
dbSNP: rs761953453
rs761953453
AIFM1 ; RAB33A
1 1.000 0.120 X 130130094 missense variant G/A snv 5.5E-06 9.5E-06 0.700 0
dbSNP: rs765061840
rs765061840
SPG11
6 0.882 0.120 15 44633619 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs769235753
rs769235753
SLC17A5
4 0.925 0.120 6 73644582 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs121908345
rs121908345
MLC1
6 0.827 0.240 22 50080391 missense variant G/A snv 1.3E-04 6.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs1364050643
rs1364050643
REEP1
5 0.851 0.240 2 86232711 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs151266052
rs151266052
SDHA
3 0.925 0.120 5 240448 missense variant C/T snv 6.0E-04 2.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs1554988032
rs1554988032
ACER3
2 0.925 0.120 11 76861074 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs202101384
rs202101384
SDHB
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs267608670
rs267608670
POLR3A
2 0.925 0.240 10 78007761 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs397514541
rs397514541
SDHA
3 0.925 0.120 5 240451 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs542844862
rs542844862
PEX16
1 1.000 0.120 11 45913876 missense variant C/T snv 8.1E-06 0.010 1.000 1 2018 2018