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: rs201851995
rs201851995
RSRC1
2 3 158119720 intron variant TTAT/- delins 1.4E-04 0.700 1.000 1 2018 2018
dbSNP: rs35175632
rs35175632
ABHD17C
1 15 80745392 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs5794844
rs5794844
NCAM1
1 11 113089378 intron variant TT/-;T;TTT delins 0.54 0.700 1.000 1 2017 2017
dbSNP: rs150155092
rs150155092
ADARB2
1 10 1727688 intron variant TA/-;TATA delins 7.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs569550
rs569550
LSP1
6 0.925 0.080 11 1865838 intron variant T/G snv 0.35 0.700 1.000 4 2018 2019
dbSNP: rs6108787
rs6108787 		5 20 10986566 intron variant T/G snv 0.46 0.700 1.000 3 2017 2019
dbSNP: rs7483477
rs7483477
LINC01150
4 11 1899025 intron variant T/G snv 0.25 0.700 1.000 2 2017 2018
dbSNP: rs9810888
rs9810888
CACNA1D
3 3 53601568 intron variant T/G snv 0.51 0.700 1.000 2 2015 2018
dbSNP: rs1043069
rs1043069
XPR1
1 1 180890232 3 prime UTR variant T/G snv 0.38 0.700 1.000 1 2018 2018
dbSNP: rs10760117
rs10760117
PSMD5
1 9 120824459 non coding transcript exon variant T/G snv 0.59 0.48 0.700 1.000 1 2016 2016
dbSNP: rs10817007
rs10817007
SVEP1
1 9 110392967 intron variant T/G snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs10832417
rs10832417
KCNQ1 ; KCNQ1OT1
3 11 2631427 non coding transcript exon variant T/G snv 0.32 0.700 1.000 1 2013 2013
dbSNP: rs11000752
rs11000752
BMS1P4 ; BMS1P4-AGAP5
1 10 73710597 intron variant T/G snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs11105364
rs11105364
ATP2B1
4 12 89675499 intron variant T/G snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs113744258
rs113744258 		1 12 65979721 intergenic variant T/G snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs11615755
rs11615755
MED21
1 12 27063628 intron variant T/G snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs11643209
rs11643209
CFDP1
1 16 75297146 intron variant T/G snv 3.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs12675715
rs12675715
TSNARE1
1 8 142270206 intron variant T/G snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs13020428
rs13020428 		1 2 113675066 downstream gene variant T/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs1449386
rs1449386
CADM2
1 3 85569929 intron variant T/G snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs147202915
rs147202915 		1 5 115058718 intergenic variant T/G snv 0.54 0.700 1.000 1 2019 2019
dbSNP: rs17035181
rs17035181 		1 4 156757359 downstream gene variant T/G snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs17114641
rs17114641
SUFU
1 10 102527602 intron variant T/G snv 9.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs1729413
rs1729413 		1 2 200221940 intergenic variant T/G snv 0.49 0.700 1.000 1 2019 2019
dbSNP: rs1860509
rs1860509
TBXAS1 ; HIPK2
1 7 139778376 5 prime UTR variant T/G snv 0.37 0.700 1.000 1 2019 2019