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: rs11459029
rs11459029
ARHGEF3
1 3 56740187 intron variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs143558304
rs143558304
TPM4
2 19 16102887 3 prime UTR variant -/A delins 4.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs3215853
rs3215853
DOCK8
1 9 273178 intron variant -/A delins 0.72 0.700 1.000 1 2016 2016
dbSNP: rs35547687
rs35547687 		1 7 158833186 upstream gene variant -/A;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs56990409
rs56990409 		1 12 7989603 intergenic variant -/A;AA;AAAAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs11471957
rs11471957
TUBB1
2 20 59023277 intron variant -/AA ins 0.700 1.000 1 2016 2016
dbSNP: rs111896493
rs111896493
ADGRE5
1 19 14381256 5 prime UTR variant -/AGTG delins 0.700 1.000 1 2016 2016
dbSNP: rs3840870
rs3840870
COL1A1
13 17 50184820 3 prime UTR variant -/CTTG delins 0.700 1.000 1 2019 2019
dbSNP: rs532990872
rs532990872
PDS5B
1 13 32605907 intron variant -/TC ins 0.700 1.000 1 2016 2016
dbSNP: rs75761474
rs75761474
CD226
1 18 69849610 intron variant A/- del 0.53 0.700 1.000 2 2009 2012
dbSNP: rs563151485
rs563151485
TAF7
1 5 141322493 intron variant A/- delins 6.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs56318916
rs56318916
DOCK8
2 9 329344 intron variant A/- del 0.22 0.700 1.000 1 2016 2016
dbSNP: rs34061204
rs34061204
BANK1
1 4 101878992 intron variant A/-;AA;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs35383388
rs35383388
ACSL5
1 10 112391369 intron variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10506328
rs10506328
NFE2
1 12 54293448 intron variant A/C snv 0.75 0.800 1.000 2 2009 2014
dbSNP: rs2393967
rs2393967
JMJD1C ; MIR1296
3 10 63373396 intron variant A/C snv 0.23 0.800 1.000 2 2009 2012
dbSNP: rs893001
rs893001
CD226
1 18 69849610 intron variant A/C snv 0.18 0.800 1.000 2 2009 2012
dbSNP: rs11950562
rs11950562
SLC22A4 ; MIR3936HG
1 5 132316836 intron variant A/C snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs12102677
rs12102677
CBFA2T3 ; LOC100129697
1 16 88950086 intron variant A/C snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs80012730
rs80012730 		2 12 49277876 upstream gene variant A/C snv 6.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs80226907
rs80226907 		1 14 55198171 intron variant A/C snv 5.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs112505971
rs112505971
ANKRD26
13 10 27068541 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs987044
rs987044
SSH1
1 12 108856580 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs75763843
rs75763843
LINC01478
2 18 44482415 intron variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12485738
rs12485738
ARHGEF3
1 3 56831748 intron variant A/G snv 0.63 0.800 1.000 3 2009 2012