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: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.040 0.750 4 2016 2019
dbSNP: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.040 1.000 4 2016 2019
dbSNP: rs7421861
rs7421861
9 0.790 0.200 2 241853198 intron variant A/G;T snv 0.040 0.500 4 2016 2019
dbSNP: rs2227982
rs2227982
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.030 0.333 3 2016 2018
dbSNP: rs10204525
rs10204525
20 0.701 0.440 2 241850169 3 prime UTR variant C/T snv 0.21 0.020 0.500 2 2014 2016
dbSNP: rs36084323
rs36084323
8 0.807 0.280 2 241859444 upstream gene variant C/T snv 5.4E-02 0.020 1.000 2 2018 2018