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: rs72755233
rs72755233
ADAMTS17
5 1.000 0.080 15 100152748 missense variant G/A;T snv 7.1E-02; 3.2E-05 0.700 1.000 2 2017 2018
dbSNP: rs1501086
rs1501086
EMCN ; LOC105377345
1 4 100539519 intron variant T/A snv 0.14 0.700 1.000 2 2018 2018
dbSNP: rs11123857
rs11123857
NPAS2
2 2 100987350 non coding transcript exon variant A/G snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs55771809
rs55771809
TBC1D8
1 2 101031432 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs807037
rs807037
KAZALD1
1 10 101064592 missense variant G/C;T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs12150284
rs12150284
GAS7
3 1.000 0.040 17 10127773 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs9913911
rs9913911
GAS7
4 0.925 0.040 17 10127866 intron variant A/G snv 0.32 0.700 1.000 6 2014 2018
dbSNP: rs11656696
rs11656696
GAS7
5 0.882 0.040 17 10130362 intron variant C/A snv 0.36 0.700 1.000 2 2012 2017
dbSNP: rs11772848
rs11772848
COL26A1
1 7 101400749 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs62465642
rs62465642
COL26A1
1 7 101414212 intron variant A/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs10860882
rs10860882
LOC105369944
1 12 102577841 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs4764899
rs4764899
LOC105369944
1 12 102588432 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11111315
rs11111315
LOC105369944
1 12 102590136 intergenic variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs72848971
rs72848971
NEURL1
1 10 103545244 intron variant G/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs2041475
rs2041475
RELN
1 7 103547614 intron variant C/T snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs3740471
rs3740471
SH3PXD2A
1 10 103603532 synonymous variant T/C snv 0.18 0.17 0.700 1.000 1 2018 2018
dbSNP: rs10507170
rs10507170
TTC41P
1 12 103851268 intron variant G/A snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs11553764
rs11553764
GLT8D2
2 12 104021466 5 prime UTR variant C/T snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs2487048
rs2487048
ABCA1 ; LOC105376196
1 9 104929542 upstream gene variant A/G snv 0.66 0.700 1.000 1 2017 2017
dbSNP: rs7759938
rs7759938
LIN28B-AS1
7 0.925 0.120 6 104931079 intron variant C/T snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs111307712
rs111307712
LIN28B-AS1
1 6 104931801 intron variant T/C snv 9.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs2472496
rs2472496
LOC105376196
2 1.000 0.040 9 104933072 upstream gene variant G/A snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2472494
rs2472494
LOC105376196
2 1.000 0.040 9 104933258 downstream gene variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs2472493
rs2472493
LOC105376196
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 3 2014 2018
dbSNP: rs2437819
rs2437819
LOC105376196
1 9 104936915 regulatory region variant G/T snv 0.75 0.700 1.000 1 2018 2018