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: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T 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: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.020 1.000 2 2011 2016
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
24 0.742 0.360 6 78961751 frameshift variant C/- del 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: rs878854378
rs878854378
TTN ; TTN-AS1
33 0.742 0.320 2 178533657 inframe deletion GTT/- delins 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs28937900
rs28937900
FKRP
37 0.752 0.160 19 46756276 missense variant C/A;T snv 1.0E-03 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs113422242
rs113422242
FBN1
14 0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1555429629
rs1555429629
RAD51
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0