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: rs35188965
rs35188965
SLC12A7
12 5 1104823 intron variant C/G;T snv 0.700 1.000 3 2016 2019
dbSNP: rs4672497
rs4672497 		5 2 62296430 TF binding site variant C/G;T snv 0.700 1.000 3 2016 2019
dbSNP: rs9898189
rs9898189
FOXK2
2 17 82522640 intron variant C/A;G snv 0.700 1.000 3 2016 2019
dbSNP: rs10405535
rs10405535
PDCD5
2 19 32581179 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs10988207
rs10988207
CRAT
2 9 129104851 intron variant G/A;C;T snv 0.700 1.000 2 2016 2017
dbSNP: rs11756659
rs11756659 		4 6 25933704 upstream gene variant A/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs144204502
rs144204502
TK1 ; AFMID
4 17 78187152 5 prime UTR variant C/G;T snv 1.2E-02 0.700 1.000 2 2016 2017
dbSNP: rs1958078
rs1958078
SMOC1
4 14 69888141 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 2 2019 2019
dbSNP: rs34156328
rs34156328
MARCHF8 ; LOC105378286
2 10 45507812 intron variant AAA/-;AA;AAAA;AAAAA delins 0.700 1.000 2 2016 2017
dbSNP: rs368865
rs368865
ATP11A
4 13 112825506 missense variant A/C;G;T snv 0.76; 4.0E-06 0.700 1.000 2 2017 2019
dbSNP: rs55730005
rs55730005
UNC119B
2 12 120719733 intron variant C/A;G snv 0.700 1.000 2 2017 2019
dbSNP: rs5754120
rs5754120 		2 22 32503871 downstream gene variant T/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs6493544
rs6493544 		2 15 31245356 intergenic variant C/G;T snv 0.700 1.000 2 2017 2019
dbSNP: rs67806247
rs67806247
TMEM259
2 19 1014539 intron variant TGATGGGGCG/-;TGATGGGGCGTGATGGGGCG delins 0.700 1.000 2 2016 2017
dbSNP: rs7115329
rs7115329
CLMP
2 11 123078837 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs739385
rs739385 		4 7 93053295 regulatory region variant G/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs79755767
rs79755767
COPZ1
2 12 54304624 intron variant G/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs801011
rs801011
GTF2IRD2
2 7 74822195 non coding transcript exon variant C/T snv 0.700 1.000 2 2016 2017
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs10071838
rs10071838
LMBRD2 ; MIR580
2 5 36147704 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10194817
rs10194817
FKBP1B ; WDCP ; MFSD2B
2 2 24034181 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10424619
rs10424619
USF2
2 19 35277334 non coding transcript exon variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10503728
rs10503728
SLC25A37
2 8 23563489 intron variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10774463
rs10774463
WNK1
2 12 792399 intron variant G/A;C snv 0.700 1.000 1 2019 2019