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: rs112193369
rs112193369
CAMTA1
1 1.000 0.080 1 7498191 intron variant -/AGTGTG;AGTGTGTG;AGTGTTGGTG;AGTGTTGGTGTG;AGTGTTGGTGTGTG;GGTG delins 0.700 1.000 1 2020 2020
dbSNP: rs11228583
rs11228583 		1 1.000 0.080 11 69241647 regulatory region variant G/T snv 0.50 0.700 1.000 1 2014 2014
dbSNP: rs112293876
rs112293876
MAP2K1
1 1.000 0.080 15 66472304 intron variant AA/-;A;AAA;AAAA delins 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11230328
rs11230328
MS4A5
1 1.000 0.080 11 60441351 intron variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11290954
rs11290954
EMSY
1 1.000 0.080 11 76549500 intron variant C/- del 0.28 0.700 1.000 1 2018 2018
dbSNP: rs113370662
rs113370662 		1 1.000 0.080 4 3535970 upstream gene variant C/T snv 3.0E-02 0.700 1.000 1 2020 2020
dbSNP: rs11452686
rs11452686
ITGB8
1 1.000 0.080 7 20374488 intron variant AAAAA/-;A;AAA;AAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAAAAAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs114780236
rs114780236
WDPCP
1 1.000 0.080 2 63561915 intron variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs11480453
rs11480453 		1 1.000 0.080 20 32759707 upstream gene variant AA/-;A;AAA;AAAA;AAAAA;AAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs114997855
rs114997855 		1 1.000 0.080 2 30399958 intergenic variant G/A snv 3.5E-02 0.700 1.000 1 2015 2015
dbSNP: rs115306967
rs115306967 		1 1.000 0.080 6 32433162 intergenic variant G/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs115457135
rs115457135
TRIM31 ; TRIM31-AS1
1 1.000 0.080 6 30105999 intron variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs11574532
rs11574532
ITGB7
1 1.000 0.080 12 53200654 intron variant C/T snv 7.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs11624322
rs11624322 		1 1.000 0.080 14 36589404 intron variant C/T snv 0.34 0.700 1.000 1 2020 2020
dbSNP: rs11629412
rs11629412
PAX9
1 1.000 0.080 14 36669089 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11666569
rs11666569
MYO9B
1 1.000 0.080 19 17103263 non coding transcript exon variant C/T snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs11687040
rs11687040 		1 1.000 0.080 2 237171408 regulatory region variant G/A snv 1.1E-02 0.700 1.000 1 2020 2020
dbSNP: rs11691517
rs11691517
BCL2L11 ; MIR4435-2HG
1 1.000 0.080 2 111135519 intron variant T/G snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs118005503
rs118005503 		1 1.000 0.080 19 31676897 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11859370
rs11859370
ADGRG1
1 1.000 0.080 16 57619621 intron variant T/G snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs11863709
rs11863709
ADGRG1
1 1.000 0.080 16 57620664 intron variant C/T snv 3.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs12051443
rs12051443
PHLPP2
1 1.000 0.080 16 71657426 intron variant G/A;C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs12198220
rs12198220 		1 1.000 0.080 6 21330062 intergenic variant G/T snv 0.58 0.700 1.000 1 2015 2015
dbSNP: rs12270641
rs12270641 		1 1.000 0.080 11 69244777 intergenic variant T/A snv 0.49 0.700 1.000 1 2016 2016
dbSNP: rs12480328
rs12480328
ADNP
1 1.000 0.080 20 50911385 intron variant T/A;C;G snv 0.700 1.000 1 2014 2014