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: rs10711289
rs10711289
MECOM ; MECOM-AS1
1 3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins 0.700 1.000 1 2016 2016
dbSNP: rs10953299
rs10953299
ACTL6B
1 7 100645788 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs111843364
rs111843364
HYDIN
1 16 70923707 intron variant G/A snv 3.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs11665867
rs11665867
SNRPA
1 19 40760574 intron variant A/G snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs12520522
rs12520522 		1 5 40494576 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12548864
rs12548864
PVT1
1 8 127916000 intron variant C/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs138308793
rs138308793
MIR4435-2HG ; SOCAR
1 2 111493181 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs143985986
rs143985986
PXK
1 3 58414160 3 prime UTR variant C/- del 0.25 0.700 1.000 1 2016 2016
dbSNP: rs145611121
rs145611121
PRDM16
1 1 3402268 intron variant -/C;CC delins 0.700 1.000 1 2016 2016
dbSNP: rs150522999
rs150522999
LINC00894
1 X 150167578 intron variant C/G snv 5.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs151165225
rs151165225
MARK4
1 19 45257662 intron variant C/T snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs17400517
rs17400517
FCGR2A
1 1 161515469 intron variant G/T snv 8.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs17636351
rs17636351 		1 12 59216246 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2326451
rs2326451 		1 6 126490782 intron variant A/T snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs4662402
rs4662402
TEX41
1 2 144886978 intron variant C/T snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs552708909
rs552708909
PRRG2 ; NOSIP
1 19 49587166 intron variant T/-;TT;TTT delins 0.700 1.000 1 2016 2016
dbSNP: rs554093579
rs554093579 		1 7 100537063 upstream gene variant A/C snv 5.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs576195416
rs576195416
EGLN1
1 1 231374522 intron variant TT/-;T;TTT;TTTT;TTTTTTTTTTTT delins 0.700 1.000 1 2016 2016
dbSNP: rs6430549
rs6430549
ACMSD ; CCNT2-AS1
1 2 134858776 intron variant A/G snv 0.58 0.700 1.000 1 2017 2017
dbSNP: rs6442310
rs6442310
PPARG
1 3 12316731 intron variant T/A snv 0.66 0.700 1.000 1 2016 2016
dbSNP: rs6745983
rs6745983
TMEM163
1 2 134673139 intron variant G/A snv 0.55 0.700 1.000 1 2018 2018
dbSNP: rs7311607
rs7311607
CACNA1C
1 12 2413815 intron variant A/G snv 0.34 0.700 1.000 1 2016 2016
dbSNP: rs73736914
rs73736914
LOC101929705
1 6 44010849 intron variant A/G snv 3.6E-02 0.700 1.000 1 2018 2018
dbSNP: rs75225321
rs75225321 		1 16 89672182 non coding transcript exon variant G/- del 0.23 0.700 1.000 1 2016 2016
dbSNP: rs7563124
rs7563124
PSD4
1 2 113207621 3 prime UTR variant T/A snv 0.27 0.700 1.000 1 2016 2016