Source: CURATED ×
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: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.800 1.000 1 2014 2014
dbSNP: rs17771318
rs17771318
WDFY4
1 10 48703312 intron variant G/A snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs1869717
rs1869717
MAML3
16 0.851 0.120 4 139829967 intron variant G/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs1986743
rs1986743
ARL6IP6
1 2 152730385 intron variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2084637
rs2084637
MIR100HG
1 11 122520479 intron variant T/C snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs2084898
rs2084898
TRIM29
1 11 120156040 intron variant G/A snv 9.3E-02 0.700 1.000 1 2012 2012
dbSNP: rs2238151
rs2238151
ALDH2
2 1.000 0.040 12 111774029 intron variant T/C snv 0.52 0.800 1.000 1 2012 2012
dbSNP: rs225132
rs225132 		1 1 8035440 intron variant T/G snv 0.27 0.800 1.000 1 2014 2014
dbSNP: rs2283436
rs2283436
ABHD2
1 15 89188545 intron variant T/C snv 9.6E-02 0.700 1.000 1 2011 2011
dbSNP: rs2304556
rs2304556
FMNL2
1 2 152617280 intron variant T/G snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs2632512
rs2632512
RNF43 ; TSPOAP1-AS1
1 17 58374461 intron variant T/C snv 0.85 0.700 1.000 1 2018 2018
dbSNP: rs2822388
rs2822388
LOC105377134
1 21 14035713 intron variant A/G snv 4.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs309247
rs309247
TMX3 ; CCDC102B
1 18 68715827 intron variant C/G snv 7.3E-02 0.700 1.000 1 2013 2013
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs35276016
rs35276016
LINC02828
1 6 24740561 intron variant C/T snv 5.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs4444878
rs4444878
F11-AS1
7 0.851 0.120 4 186292729 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4471613
rs4471613
ALDH1A2
2 1.000 0.080 15 58259495 intron variant G/A snv 4.3E-02 0.710 1.000 1 2015 2015
dbSNP: rs4506565
rs4506565
TCF7L2
19 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs4704221
rs4704221
CERT1
16 0.851 0.120 5 75463358 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs4714955
rs4714955
PHACTR1
2 1.000 0.040 6 12903203 intron variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs4905014
rs4905014
ITPK1
16 0.851 0.120 14 92945686 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs529565
rs529565
ABO
12 0.851 0.120 9 133274084 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs56217800
rs56217800
PHF20L1
1 8 132781024 intron variant T/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs56352300
rs56352300
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.42 0.700 1.000 1 2011 2011
dbSNP: rs5744680
rs5744680
POLK
18 0.851 0.120 5 75584065 intron variant G/A snv 0.55 0.700 1.000 1 2016 2016