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: rs1898830
rs1898830
10 0.807 0.280 4 153687301 intron variant A/G snv 0.30 0.020 1.000 2 2013 2016
dbSNP: rs3804100
rs3804100
36 0.633 0.720 4 153704257 synonymous variant T/C snv 9.0E-02 6.7E-02 0.020 1.000 2 2013 2016
dbSNP: rs2255336
rs2255336
5 0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74 0.010 1.000 1 2015 2015
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2016 2016
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs72558132
rs72558132
1 1.000 0.040 6 31271725 missense variant C/A;T snv 0.010 1.000 1 2015 2015