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: rs1137070
rs1137070
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2017 2017
dbSNP: rs1280296282
rs1280296282
1 1.000 0.080 20 1982967 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2006 2006
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2010 2010
dbSNP: rs737866
rs737866
2 1.000 0.080 22 19942586 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2010 2010