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: rs724159974
rs724159974
1 1.000 16 30993375 missense variant A/T snv 0.800 1.000 1 2014 2014
dbSNP: rs727502806
rs727502806
1 1.000 16 30993240 missense variant C/G snv 0.800 0
dbSNP: rs1114167275
rs1114167275
1 1.000 16 31001165 protein altering variant -/CAATGCACATCC ins 0.700 0
dbSNP: rs1567379671
rs1567379671
1 1.000 16 31001597 frameshift variant -/TT delins 0.700 0
dbSNP: rs200979563
rs200979563
1 1.000 16 31001159 stop gained G/A;T snv 2.8E-05 0.700 0
dbSNP: rs724159973
rs724159973
1 1.000 16 31001133 stop gained G/A snv 0.700 0