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: rs1561500885
rs1561500885
SMN1 ; SMN2
2 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007
dbSNP: rs746581714
rs746581714
IGHMBP2
4 0.882 0.120 11 68917801 frameshift variant AAGAA/- delins 8.0E-06 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs780594709
rs780594709
IGHMBP2
4 0.882 0.120 11 68933854 missense variant C/T snv 6.3E-05 2.8E-05 0.700 1.000 1 2016 2016
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs1553621496
rs1553621496
UNC80
53 0.677 0.440 2 209976305 splice donor variant T/G snv 0.700 0
dbSNP: rs1554699491
rs1554699491
AGTPBP1
23 0.763 0.280 9 85596450 splice acceptor variant C/A snv 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: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
23 0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121917834
rs121917834
SFTPC
10 0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05 0.020 1.000 2 2004 2016
dbSNP: rs121917836
rs121917836
SFTPC
4 0.882 0.040 8 22162727 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs150516929
rs150516929
CRYAB
8 0.807 0.240 11 111908832 missense variant C/T snv 9.1E-04 8.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs181657861
rs181657861
IGHMBP2
1 1.000 0.040 11 68908232 missense variant C/T snv 9.5E-04 4.6E-04 0.010 1.000 1 2016 2016
dbSNP: rs1927907
rs1927907
TLR4
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs368775789
rs368775789
IGHMBP2
2 0.925 0.120 11 68935403 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs372318863
rs372318863
EXOSC9
3 0.882 0.160 4 121804718 stop gained C/G;T snv 8.0E-06; 2.0E-05 0.010 1.000 1 2020 2020
dbSNP: rs57983345
rs57983345
LMNA
6 0.851 0.160 1 156115034 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs72466485
rs72466485
DCTN1
3 0.882 0.200 2 74378068 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs75961395
rs75961395
CFTR
10 0.763 0.280 7 117509123 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 1996 1996
dbSNP: rs770153273
rs770153273
DCTN1
3 0.882 0.200 2 74371569 missense variant C/G snv 3.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs80356734
rs80356734
TARDBP
4 0.851 0.160 1 11022464 missense variant A/G snv 0.010 1.000 1 2008 2008