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: rs1014290
rs1014290
SLC2A9 ; LOC105374476
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs10247962
rs10247962
TFR2
2 1.000 0.040 7 100622306 intron variant G/A snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs4434553
rs4434553
TFR2
5 1.000 0.040 7 100642568 intron variant A/G snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs73656147
rs73656147
PLPPR1
1 1.000 0.040 9 101115169 intron variant A/G snv 7.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs2338971
rs2338971 		1 1.000 0.040 1 101414449 intergenic variant T/A;C snv 0.810 1.000 2 2014 2016
dbSNP: rs34043159
rs34043159
MAP4K4
1 1.000 0.040 2 101796654 intron variant T/C snv 0.28 0.710 1.000 2 2017 2018
dbSNP: rs2720208
rs2720208
PPP2R5C
1 1.000 0.040 14 101911437 intron variant A/G snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs2281983
rs2281983
PITX3
4 0.851 0.080 10 102231624 missense variant G/A;C;T snv 0.62; 8.3E-06 0.060 0.833 6 2011 2017
dbSNP: rs751473385
rs751473385
PITX3
1 1.000 0.040 10 102231690 synonymous variant C/T snv 4.1E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1013639215
rs1013639215
PITX3
1 1.000 0.040 10 102231987 missense variant C/G;T snv 4.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs4919621
rs4919621
PITX3
4 0.851 0.080 10 102238914 intron variant A/T snv 0.66 0.060 0.833 6 2011 2014
dbSNP: rs3758549
rs3758549
GBF1
3 0.882 0.040 10 102244438 upstream gene variant G/A snv 0.14 0.100 0.818 11 2009 2014
dbSNP: rs2296887
rs2296887
GBF1
1 1.000 0.040 10 102245653 5 prime UTR variant T/C snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
12 0.807 0.200 12 102431143 intron variant T/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs17115100
rs17115100
CYP17A1 ; WBP1L ; CYP17A1-AS1
1 1.000 0.040 10 102831636 3 prime UTR variant G/T snv 0.14 0.10 0.800 1.000 1 2009 2009
dbSNP: rs755206701
rs755206701
ICAM1
1 1.000 0.040 19 10284610 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 0.500 2 2003 2005
dbSNP: rs4409766
rs4409766
BORCS7 ; BORCS7-ASMT
6 1.000 0.040 10 102856906 intron variant T/C snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs11191425
rs11191425
BORCS7-ASMT
1 1.000 0.040 10 102866213 intron variant C/T snv 1.0E-01 0.700 1.000 1 2009 2009
dbSNP: rs12411886
rs12411886
CNNM2
3 0.882 0.080 10 102925542 intron variant C/A snv 7.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs12413409
rs12413409
CNNM2
9 0.790 0.200 10 102959339 intron variant G/A snv 9.0E-02 0.700 1.000 1 2009 2009
dbSNP: rs10463554
rs10463554
PAM
1 1.000 0.040 5 102983270 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1051312
rs1051312
SNAP25 ; SNAP25-AS1
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2019 2019