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: rs2279463
rs2279463
SLC22A2
4 1.000 0.080 6 160247357 intron variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs3812036
rs3812036
SLC34A1
5 0.925 0.120 5 177386403 intron variant C/T snv 0.23 0.20 0.700 1.000 3 2017 2018
dbSNP: rs77924615
rs77924615
PDILT
7 1.000 0.080 16 20381010 intron variant G/A snv 0.16 0.700 1.000 3 2017 2019
dbSNP: rs881858
rs881858
LOC105375069 ; LOC107986598
7 0.882 0.200 6 43838872 intron variant G/A;C snv 0.700 1.000 3 2010 2018
dbSNP: rs10774021
rs10774021
SLC6A13
4 1.000 0.080 12 240132 intron variant C/T snv 0.57 0.700 1.000 2 2010 2016
dbSNP: rs10794720
rs10794720
WDR37
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 2 2010 2016
dbSNP: rs11959928
rs11959928
C9 ; DAB2
4 1.000 0.080 5 39397030 intron variant T/A snv 0.39 0.700 1.000 2 2010 2016
dbSNP: rs12460876
rs12460876
SLC7A9
4 1.000 0.080 19 32865985 intron variant T/C snv 0.36 0.700 1.000 2 2010 2016
dbSNP: rs13146355
rs13146355
SHROOM3
6 1.000 0.040 4 76490987 intron variant G/A snv 0.33 0.700 1.000 2 2017 2019
dbSNP: rs1394125
rs1394125
UBE2Q2
7 0.882 0.200 15 75866642 intron variant G/A;T snv 0.700 1.000 2 2010 2016
dbSNP: rs17319721
rs17319721
SHROOM3
5 0.925 0.080 4 76447694 intron variant G/A snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs2467853
rs2467853
SPATA5L1
4 1.000 0.080 15 45406595 intron variant T/A;G snv 0.700 1.000 2 2016 2019
dbSNP: rs347685
rs347685
TFDP2
4 1.000 0.080 3 142088295 intron variant C/A snv 0.74 0.700 1.000 2 2010 2016
dbSNP: rs4744712
rs4744712
PIP5K1B
4 1.000 0.080 9 68819791 intron variant A/C;T snv 0.700 1.000 2 2010 2016
dbSNP: rs491567
rs491567
WDR72
4 1.000 0.080 15 53654396 intron variant A/C snv 0.34 0.700 1.000 2 2010 2016
dbSNP: rs626277
rs626277
DACH1
5 1.000 0.080 13 71773564 intron variant A/C snv 0.51 0.700 1.000 2 2010 2016
dbSNP: rs6420094
rs6420094
SLC34A1
5 1.000 0.080 5 177390635 intron variant A/G snv 0.29 0.700 1.000 2 2010 2016
dbSNP: rs716877
rs716877
DACH1
2 13 71773316 intron variant C/G snv 0.43 0.700 1.000 2 2016 2018
dbSNP: rs7247977
rs7247977
SLC7A9
2 19 32867449 intron variant T/C snv 0.46 0.700 1.000 2 2017 2018
dbSNP: rs10062079
rs10062079
C9 ; DAB2
1 5 39393631 intron variant G/A snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs10127790
rs10127790
SORT1
2 1 109348511 intron variant C/T snv 0.63 0.700 1.000 1 2017 2017
dbSNP: rs10206899
rs10206899
ALMS1P1
3 2 73673773 intron variant T/C;G snv 0.21; 3.9E-05 0.700 1.000 1 2010 2010
dbSNP: rs10254101
rs10254101
PRKAG2
3 7 151718450 intron variant C/T snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10262995
rs10262995
BBS9
1 7 33510429 intron variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs10491967
rs10491967
TSPAN9
2 12 3258927 intron variant G/A snv 0.21 0.700 1.000 1 2016 2016