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: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 3 2013 2018
dbSNP: rs12913832
rs12913832
HERC2
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.700 1.000 3 2013 2018
dbSNP: rs1126809
rs1126809
TYR ; LOC107984363
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.700 1.000 2 2013 2018
dbSNP: rs16891982
rs16891982
SLC45A2
13 0.776 0.200 5 33951588 missense variant C/A;G snv 0.65 0.700 1.000 2 2018 2018
dbSNP: rs1800407
rs1800407
OCA2
10 0.807 0.200 15 27985172 missense variant C/T snv 4.7E-02 4.9E-02 0.700 1.000 2 2018 2018
dbSNP: rs1006548
rs1006548
FANCA
1 16 89777635 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10810650
rs10810650 		1 9 16873553 upstream gene variant C/T snv 0.43 0.700 1.000 1 2018 2018
dbSNP: rs10831496
rs10831496
GRM5
1 11 88824823 intron variant A/G snv 0.49 0.700 1.000 1 2009 2009
dbSNP: rs10962612
rs10962612
BNC2
1 9 16804169 intron variant T/G snv 0.50 0.700 1.000 1 2018 2018
dbSNP: rs11018623
rs11018623
NOX4
1 11 89464544 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs112043138
rs112043138 		1 20 35763696 regulatory region variant T/A snv 6.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs1129038
rs1129038
HERC2
8 0.851 0.120 15 28111713 3 prime UTR variant C/T snv 0.49 0.50 0.700 1.000 1 2018 2018
dbSNP: rs114143322
rs114143322 		1 1 197483784 intergenic variant G/A snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs11648089
rs11648089
CHMP1A
1 16 89647530 intron variant T/C snv 6.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs11648785
rs11648785
GAS8 ; DBNDD1
1 16 90018153 intron variant C/T snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs11649211
rs11649211
AFG3L1P ; CENPBD1
1 16 89973042 intron variant G/C snv 0.64 0.700 1.000 1 2018 2018
dbSNP: rs11696169
rs11696169
SAMHD1
1 20 36923214 intron variant T/C snv 6.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs11697428
rs11697428
LOC105372606
1 20 37337505 downstream gene variant T/C snv 5.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs117156175
rs117156175
LINC02138
1 16 89168993 non coding transcript exon variant C/T snv 2.4E-02 1.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs117186940
rs117186940
BPIFA2
1 20 33172744 intron variant C/T snv 3.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs117417690
rs117417690
PRDM7
1 16 90091597 intron variant C/T snv 5.1E-02 0.700 1.000 1 2018 2018
dbSNP: rs11812960
rs11812960
KIAA1217
1 10 23876027 intron variant A/G snv 1.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs1204552
rs1204552
NORAD
2 1.000 0.040 20 36050981 non coding transcript exon variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs12210050
rs12210050
LOC105374875
8 0.807 0.040 6 475489 non coding transcript exon variant C/T snv 0.11 0.700 1.000 1 2009 2009
dbSNP: rs12792431
rs12792431
GRM5
1 11 88687669 intron variant G/C snv 0.15 0.700 1.000 1 2018 2018