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: rs3087456
rs3087456
CIITA ; LOC105371080
14 0.742 0.480 16 10877045 intron variant G/A snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs1569508922
rs1569508922
ALG13
5 0.882 0.160 X 111681268 missense variant T/A snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs4355801
rs4355801 		5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs28360457
rs28360457
P2RX7 ; LOC105370032
3 0.882 0.200 12 121175426 missense variant G/A snv 8.6E-03 1.1E-02 0.020 1.000 2 2012 2012
dbSNP: rs2230912
rs2230912
P2RX7 ; LOC105370032
16 0.752 0.280 12 121184393 missense variant A/G snv 0.13 0.12 0.010 1.000 1 2012 2012
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2007 2007
dbSNP: rs773472534
rs773472534
OPA1 ; OPA1-AS1
2 0.925 0.120 3 193618885 synonymous variant G/A snv 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs121909149
rs121909149
SH3BP2
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.020 1.000 2 2012 2014
dbSNP: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs780508132
rs780508132
DMD
2 0.925 0.080 X 32386352 missense variant T/A snv 5.5E-06 1.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs1335534133
rs1335534133
DMD
1 1.000 0.080 X 32485069 missense variant G/A snv 9.5E-06 0.010 1.000 1 2005 2005