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: rs121917899
rs121917899
2 1.000 0.080 X 48901944 missense variant A/G snv 0.810 1.000 6 2003 2015
dbSNP: rs606231193
rs606231193
6 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 1.000 4 1994 2007
dbSNP: rs606231196
rs606231196
1 1.000 0.080 X 48902788 splice donor variant -/C;CCCC delins 0.700 1.000 3 1998 2016
dbSNP: rs1557041672
rs1557041672
1 1.000 0.080 X 48902740 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs606231197
rs606231197
1 1.000 0.080 X 48902484 frameshift variant GAGCTGGCTCCCTATCCCAAGAG/- delins 0.700 0