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: rs1085308050
rs1085308050
PTEN
7 0.827 0.160 10 87933178 frameshift variant -/A delins 0.700 0
dbSNP: rs3836790
rs3836790
SLC6A3
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs1555565492
rs1555565492
RAI1
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs730882197
rs730882197
C12orf4
4 0.925 0.040 12 4525342 frameshift variant -/GTTT delins 0.700 0
dbSNP: rs1555013332
rs1555013332
SHANK2
4 0.882 0.160 11 70661635 frameshift variant -/T delins 0.700 0
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
13 0.776 0.320 6 78969879 frameshift variant A/- delins 0.700 0
dbSNP: rs1049522
rs1049522
SLC1A3
1 1.000 0.040 5 36686784 3 prime UTR variant A/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs10956838
rs10956838 		2 1.000 0.040 8 92392214 intergenic variant A/C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs11152369
rs11152369
TCF4
5 0.851 0.040 18 55399097 intron variant A/C snv 6.3E-02 0.800 1.000 1 2013 2013
dbSNP: rs11568817
rs11568817
HTR1B ; LOC105377864
8 0.790 0.120 6 77463665 5 prime UTR variant A/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs37020
rs37020
SLC6A3
1 1.000 0.040 5 1418259 intron variant A/C snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs403636
rs403636
SLC6A3
1 1.000 0.040 5 1438239 intron variant A/C snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.800 1.000 1 2013 2013
dbSNP: rs12443954
rs12443954 		5 0.851 0.040 16 89675088 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs7164335
rs7164335
ITGA11
1 1.000 0.040 15 68422693 intron variant A/C;G snv 0.800 1.000 1 2008 2008
dbSNP: rs1307997067
rs1307997067
TAX1BP3 ; P2RX5-TAX1BP3
7 0.851 0.320 17 3664199 missense variant A/C;G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs140630794
rs140630794
CHAF1B
3 0.925 0.040 21 36397429 missense variant A/C;G snv 1.3E-05; 4.2E-06 0.700 0
dbSNP: rs4916723
rs4916723
LINC00461
4 0.925 0.040 5 88558577 intron variant A/C;G;T snv 0.700 1.000 2 2019 2019
dbSNP: rs12042052
rs12042052 		1 1.000 0.040 1 232799973 upstream gene variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11191454
rs11191454
AS3MT ; BORCS7-ASMT ; LOC107984265
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.810 1.000 2 2013 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2011 2012