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: rs12811512
rs12811512
GPRC5A
3 12 12893277 intron variant C/T snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs128494
rs128494
CLDN14 ; LOC105369301
4 21 36461960 intron variant T/C snv 0.72 0.700 1.000 1 2016 2016
dbSNP: rs129128
rs129128
H2AC6 ; H2BC4
7 6 26125114 intron variant C/T snv 0.91 0.700 1.000 1 2009 2009
dbSNP: rs12945870
rs12945870
KDM6B ; DNAH2 ; LOC105371516
2 17 7834013 downstream gene variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12982593
rs12982593
DOT1L
2 19 2175892 intron variant C/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs13008603
rs13008603
PRKCE
5 2 46128709 intron variant C/A snv 0.10 0.700 1.000 1 2017 2017
dbSNP: rs130624
rs130624 		6 22 37042611 regulatory region variant G/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs13219787
rs13219787
H2AC17 ; H2BC17
5 6 27893892 upstream gene variant G/A;T snv 3.9E-02; 2.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs13335629
rs13335629
FAM234A
4 16 260381 intron variant G/A;C snv 1.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs13339636
rs13339636
FAM234A
5 16 248589 intron variant A/G snv 3.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs1340818
rs1340818
POMP
1 13 28665493 intron variant T/C snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs144861591
rs144861591 		6 6 26072764 intergenic variant C/T snv 3.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs146109634
rs146109634
BTNL2 ; TSBP1-AS1
1 6 32400784 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs147233090
rs147233090
CATSPER2P1
6 0.925 0.040 15 43735849 intron variant C/T snv 1.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs147766666
rs147766666
RANBP10
2 16 67795861 intron variant CAAACAAA/-;CAAA;CAAACAAACAAA delins 0.11 0.700 1.000 1 2016 2016
dbSNP: rs149804345
rs149804345 		3 3 56710234 intergenic variant AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs149823406
rs149823406 		2 7 100716851 upstream gene variant C/T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs150505258
rs150505258
BICC1
1 10 58525003 intron variant C/A snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs1532085
rs1532085
ALDH1A2
13 0.882 0.080 15 58391167 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1533988
rs1533988 		6 7 1253374 intergenic variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs17006441
rs17006441
MITF
1 3 69792729 intron variant C/A snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs17034641
rs17034641
PRKCE
3 2 46145505 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs17287978
rs17287978 		3 6 43973400 intergenic variant T/C snv 3.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs174533
rs174533
MYRF ; TMEM258
18 0.763 0.160 11 61781553 intron variant G/A snv 0.37 0.29 0.700 1.000 1 2016 2016
dbSNP: rs17476364
rs17476364
HK1
8 10 69334748 intron variant T/C snv 6.4E-02 0.700 1.000 1 2016 2016