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: rs1565930588
rs1565930588
HSPB8
19 0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del 0.700 1.000 3 2016 2018
dbSNP: rs167479
rs167479
RGL3
5 19 11416089 missense variant T/A;C;G snv 0.700 1.000 2 2016 2016
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs6969780
rs6969780
HOXA3 ; HOXA-AS2
4 7 27119517 splice region variant G/A;C snv 0.700 1.000 2 2016 2017
dbSNP: rs10184428
rs10184428 		5 2 164155317 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1027989
rs1027989
LYN
3 8 55901862 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10785581
rs10785581
LOC105369743
1 12 45537190 intron variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11099098
rs11099098 		8 0.925 0.120 4 80248758 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11105368
rs11105368
ATP2B1
1 12 89680664 intron variant G/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1126464
rs1126464
DPEP1
4 1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26 0.700 1.000 1 2016 2016
dbSNP: rs11953630
rs11953630 		5 5 158418394 intergenic variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs11977526
rs11977526
LOC102723446
3 7 45968511 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12063100
rs12063100 		3 1 188865413 downstream gene variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12219304
rs12219304
NT5C2
1 10 103171827 intron variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12522034
rs12522034 		1 5 36425491 intergenic variant G/A;C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12715461
rs12715461
CACNA1D
1 3 53544856 intron variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13107325
rs13107325
SLC39A8
30 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs13149993
rs13149993 		6 4 80237391 regulatory region variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs137852704
rs137852704
SCNN1B
6 0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs151344517
rs151344517
AFG3L2 ; TUBB6 ; LOC107985154
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs16998073
rs16998073 		9 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.760 0.857 1 2010 2018
dbSNP: rs17514846
rs17514846
FURIN
6 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs1859168
rs1859168
HOTTIP
4 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs200752
rs200752
MACROD2
1 20 15618886 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs2067087
rs2067087
HOXA13 ; HOTTIP
5 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 1 2018 2018