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: rs1805127
rs1805127
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.100 1.000 11 2006 2019
dbSNP: rs1805128
rs1805128
10 0.776 0.160 21 34449382 missense variant C/T snv 9.4E-03 0.010 1.000 1 2007 2007
dbSNP: rs1892593
rs1892593
1 1.000 0.080 21 34454062 intron variant G/A snv 0.44 0.010 1.000 1 2012 2012
dbSNP: rs2070356
rs2070356
1 1.000 0.080 21 34448789 3 prime UTR variant G/A snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2070357
rs2070357
1 1.000 0.080 21 34449121 3 prime UTR variant T/C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs758961135
rs758961135
1 1.000 0.080 21 34449456 missense variant C/T snv 8.0E-06 0.010 1.000 1 2012 2012