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: rs61894547
rs61894547
EMSY
4 0.882 0.160 11 76537586 intron variant C/T snv 3.1E-02 0.700 1.000 1 2014 2014
dbSNP: rs7482144
rs7482144
HBG2
4 0.882 0.280 11 5254939 3 prime UTR variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs77301713
rs77301713
CAPN5
1 1.000 0.120 11 77121400 intron variant G/A snv 2.0E-02 0.700 1.000 1 2014 2014
dbSNP: rs1059513
rs1059513
NAB2 ; STAT6
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs167769
rs167769
STAT6
5 0.827 0.280 12 57109992 5 prime UTR variant C/T snv 0.31 0.700 1.000 1 2014 2014
dbSNP: rs324011
rs324011
STAT6
12 0.742 0.360 12 57108399 intron variant C/T snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs8008716
rs8008716
LINC02588
1 1.000 0.120 14 26656559 intron variant A/G snv 8.9E-02 0.700 1.000 1 2014 2014
dbSNP: rs8041227
rs8041227 		1 1.000 0.120 15 31246339 intergenic variant G/A snv 0.18 0.700 1.000 1 2014 2014
dbSNP: rs12924112
rs12924112
CLEC16A
1 1.000 0.120 16 11125863 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs371915
rs371915
MEAK7
1 1.000 0.120 16 84544635 intron variant A/C;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs3744790
rs3744790
TIMP2 ; CEP295NL
1 1.000 0.120 17 78897053 intron variant C/T snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs9956738
rs9956738
DCC
1 1.000 0.120 18 52414603 intron variant A/G snv 4.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs3815700
rs3815700
ANKRD27
1 1.000 0.120 19 32602346 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs17004598
rs17004598
HSF2BP ; RRP1B
1 1.000 0.120 21 43658675 intron variant T/G snv 4.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs2075277
rs2075277
P2RX6
1 1.000 0.120 22 21028193 3 prime UTR variant T/C snv 0.19 0.700 1.000 1 2014 2014