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: rs4846914
rs4846914
GALNT2
6 0.925 0.080 1 230159944 intron variant G/A snv 0.45 0.800 1.000 7 2008 2019
dbSNP: rs2131925
rs2131925
DOCK7
6 1 62560271 intron variant G/T snv 0.57 0.800 1.000 5 2010 2019
dbSNP: rs12130333
rs12130333 		4 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.800 1.000 4 2008 2019
dbSNP: rs1748195
rs1748195
DOCK7
8 0.851 0.120 1 62583922 intron variant C/G;T snv 0.800 1.000 4 2008 2019
dbSNP: rs2144300
rs2144300
GALNT2
7 0.882 0.040 1 230159169 intron variant C/T snv 0.44 0.800 1.000 4 2008 2018
dbSNP: rs10889353
rs10889353
DOCK7
5 1 62652525 intron variant A/C;T snv 0.800 1.000 3 2009 2019
dbSNP: rs1167998
rs1167998
DOCK7
6 1 62465961 intron variant C/A snv 0.57 0.800 1.000 3 2009 2019
dbSNP: rs12748152
rs12748152 		8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.800 1.000 3 2013 2018
dbSNP: rs9988450
rs9988450
DOCK7
3 1 62458777 non coding transcript exon variant C/T snv 0.39 0.700 1.000 3 2015 2019
dbSNP: rs10864728
rs10864728
GALNT2
3 1 230169168 intron variant A/G snv 0.50 0.700 1.000 2 2015 2018
dbSNP: rs10889348
rs10889348
DOCK7
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 2 2018 2019
dbSNP: rs11207995
rs11207995
DOCK7
4 1 62583880 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs1168013
rs1168013
DOCK7
6 1.000 0.120 1 62531167 intron variant C/G;T snv 0.800 1.000 2 2010 2019
dbSNP: rs12042319
rs12042319
DOCK7
6 1.000 0.040 1 62584148 3 prime UTR variant G/A snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs1748197
rs1748197
DOCK7
5 1 62590441 intron variant G/A snv 0.42 0.700 1.000 2 2012 2012
dbSNP: rs3850634
rs3850634
DOCK7
4 1 62584927 intron variant T/G snv 0.33 0.34 0.700 1.000 2 2018 2019
dbSNP: rs4495740
rs4495740
DOCK7
5 1 62658794 intron variant T/G snv 0.34 0.700 1.000 2 2019 2019
dbSNP: rs629301
rs629301
CELSR2
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.800 1.000 2 2009 2016
dbSNP: rs6587980
rs6587980
DOCK7
4 1 62625187 synonymous variant C/T snv 0.40 0.700 1.000 2 2018 2019
dbSNP: rs1002487
rs1002487
RPS6KA1
1 1 26539480 intron variant T/C snv 5.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
4 1 172377408 intron variant G/A snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs10127775
rs10127775
GALNT2
4 1 230160042 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10789117
rs10789117
ANGPTL3 ; DOCK7
5 1 62606594 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10873925
rs10873925
ST6GALNAC5
1 1 76996050 intron variant A/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs10900522
rs10900522
NUCKS1
4 1 205714939 3 prime UTR variant T/C snv 0.21 0.700 1.000 1 2018 2018