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: rs786205124
rs786205124
ROGDI
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs886043994
rs886043994
ASXL1
21 0.776 0.400 20 32433355 frameshift variant GT/- delins 0.700 0
dbSNP: rs113994095
rs113994095
POLG ; MIR6766
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 44 2001 2018
dbSNP: rs2273697
rs2273697
ABCC2
11 0.776 0.360 10 99804058 missense variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs2606345
rs2606345
CYP1A1
16 0.732 0.360 15 74724835 intron variant C/A snv 0.46 0.010 1.000 1 2010 2010
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
36 0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 0.700 0
dbSNP: rs1555525115
rs1555525115
ANKRD11
5 0.851 0.360 16 89279567 frameshift variant GGCTTCGG/- delins 0.700 0
dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 7 2000 2019
dbSNP: rs113994098
rs113994098
POLG
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 2 2002 2011
dbSNP: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.010 1.000 1 2017 2017
dbSNP: rs53576
rs53576
CAV3 ; OXTR
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs74315401
rs74315401
PRNP
32 0.683 0.320 20 4699525 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1325394060
rs1325394060
HUWE1
9 0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 0.700 0
dbSNP: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1557036768
rs1557036768
HUWE1
44 0.708 0.320 X 53647390 missense variant C/T snv 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0