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: rs1557055405
rs1557055405
ABCD1
21 0.807 0.400 X 153743532 missense variant T/A snv 0.700 1.000 1 1998 1998
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518845
rs1057518845
SOX5 ; LOC105369696
5 0.925 0.120 12 23755726 splice acceptor variant T/G snv 0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs1057518914
rs1057518914
RPS6KA3
14 0.790 0.160 X 20193547 missense variant G/C snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
dbSNP: rs1555630216
rs1555630216
PIEZO2
22 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
22 0.790 0.160 18 10795003 splice acceptor variant C/T snv 0.700 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs542489955
rs542489955
FKBP14 ; LOC105375215
6 0.851 0.120 7 30019110 frameshift variant -/G delins 5.5E-04 5.4E-04 0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
33 0.742 0.320 2 178589003 stop gained G/A;T 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: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs281865136
rs281865136
EGR2
3 0.882 0.120 10 62813562 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs864622273
rs864622273
EGR2
3 0.882 0.120 10 62813412 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005