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: rs267606617
rs267606617
ND1 ; RNR1
1 1.000 0.120 MT 1555 non coding transcript exon variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs587781261
rs587781261
PRPS1
3 0.925 0.160 X 107640932 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs587781262
rs587781262
PRPS1
6 0.882 0.240 X 107640938 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs587781263
rs587781263
PRPS1
5 0.925 0.240 X 107650000 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs786204123
rs786204123
GJB1
3 0.882 0.160 X 71224132 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1057518895
rs1057518895
AIFM1 ; RAB33A
4 1.000 0.120 X 130137134 start lost A/G snv 0.700 0
dbSNP: rs1569492161
rs1569492161
COL4A5
4 0.882 0.280 X 108586729 missense variant G/C snv 0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80338826
rs80338826
MYH9
6 0.827 0.320 22 36305985 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80338827
rs80338827
MYH9
4 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80338828
rs80338828
MYH9
6 0.851 0.200 22 36305975 missense variant C/T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs80338829
rs80338829
MYH9
5 0.851 0.200 22 36295069 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80338830
rs80338830
MYH9
3 0.925 0.160 22 36295068 missense variant C/A snv 0.010 1.000 1 2016 2016
dbSNP: rs80338834
rs80338834
MYH9
3 0.925 0.160 22 36284474 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1569167515
rs1569167515
POLR2F ; SOX10
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs1569169328
rs1569169328
POLR2F ; SOX10
3 0.925 0.200 22 37978136 splice acceptor variant C/T snv 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: rs104895564
rs104895564
NLRP12
3 0.925 0.200 19 53810809 stop gained G/A snv 1.5E-04 4.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1348505504
rs1348505504
GIPC3
1 1.000 0.120 19 3586669 missense variant G/A snv 7.4E-06 0.700 0
dbSNP: rs1555741826
rs1555741826
PRR12
16 0.776 0.280 19 49601646 frameshift variant TGCC/- delins 0.700 0
dbSNP: rs1555661648
rs1555661648
AQP4 ; AQP4-AS1
6 0.882 0.240 18 26862297 missense variant C/G snv 0.700 0
dbSNP: rs1391331735
rs1391331735
MYO15A ; LOC105371566
2 0.925 0.120 17 18126795 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs372466080
rs372466080
MYO15A
2 0.925 0.120 17 18166434 synonymous variant C/T snv 1.9E-04 1.0E-04 0.700 0