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: rs920363358
rs920363358
INA
1 10 103277773 missense variant G/A snv 3.5E-05 1.4E-05 0.700 0
dbSNP: rs146732064
rs146732064
HADH
1 4 108014518 missense variant G/C;T snv 3.0E-04 0.700 0
dbSNP: rs763757845
rs763757845
FAM222A ; FAM222A-AS1
1 12 109768213 missense variant A/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1060499762
rs1060499762
LARP7 ; MIR367 ; MIR302CHG
1 4 112647384 stop gained A/T snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 1 113900063 missense variant A/G snv 0.700 0
dbSNP: rs762879329
rs762879329
SLC18A2
1 10 117255281 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs61743088
rs61743088
ROS1
1 6 117394232 missense variant C/G;T snv 1.5E-03; 8.1E-06 0.700 0
dbSNP: rs759222737
rs759222737
DSCAML1
1 11 117518745 missense variant C/G;T snv 8.2E-06; 2.5E-05 0.700 0
dbSNP: rs767983680
rs767983680
CACNA1H
1 16 1204058 missense variant C/A;G snv 1.9E-05 0.700 0
dbSNP: rs775271588
rs775271588
CACNA1H
1 16 1220830 missense variant A/G snv 6.4E-05 1.4E-05 0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs779613772
rs779613772
DHX37
1 12 124967167 missense variant C/T snv 3.6E-05 5.6E-05 0.700 0
dbSNP: rs1060499737
rs1060499737
DHX37
3 12 124968903 missense variant G/T snv 0.700 0
dbSNP: rs754025360
rs754025360
CDON
1 11 125961960 missense variant G/A;C snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
1 5 126577158 missense variant T/C snv 0.700 0
dbSNP: rs77358650
rs77358650
SPTAN1
1 9 128580928 missense variant G/A snv 5.2E-03 1.8E-03 0.700 0
dbSNP: rs1060499736
rs1060499736
SMARCA1
1 X 129523364 stop gained G/A snv 0.700 0
dbSNP: rs587777819
rs587777819
POMT1
3 0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs374879755
rs374879755
MXRA8
1 1 1353913 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs1060499772
rs1060499772
DARS1
1 2 135943412 missense variant C/G snv 0.700 0
dbSNP: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
dbSNP: rs200361128
rs200361128
SOX3
2 1.000 0.040 X 140504904 missense variant C/G snv 7.4E-03 4.0E-03 0.700 0
dbSNP: rs1060499770
rs1060499770
ZEB2
1 2 144429823 frameshift variant ACCCTCC/- delins 0.700 0