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: rs137853312
rs137853312
7 0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06 0.700 1.000 3 2005 2006
dbSNP: rs137853317
rs137853317
5 0.827 0.120 X 154367878 missense variant G/A snv 0.700 1.000 3 2003 2007
dbSNP: rs1557176315
rs1557176315
4 0.851 0.120 X 154353914 splice donor variant C/G snv 0.700 1.000 3 2006 2015
dbSNP: rs1557177485
rs1557177485
4 0.851 0.120 X 154359407 splice acceptor variant C/A snv 0.700 1.000 3 2006 2015
dbSNP: rs786205186
rs786205186
5 0.827 0.120 X 154362417 splice donor variant C/G;T snv 0.700 1.000 3 2006 2015
dbSNP: rs797045044
rs797045044
5 0.827 0.240 X 154358228 missense variant C/T snv 9.4E-06 0.700 1.000 2 2016 2016
dbSNP: rs1060500716
rs1060500716
4 0.851 0.120 X 154360127 missense variant G/A snv 0.700 0
dbSNP: rs1060500718
rs1060500718
4 0.851 0.120 X 154353329 frameshift variant AG/- del 0.700 0
dbSNP: rs1557177086
rs1557177086
4 0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins 0.700 0
dbSNP: rs1557177279
rs1557177279
4 0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins 0.700 0
dbSNP: rs1557177623
rs1557177623
4 0.851 0.120 X 154359846 stop gained C/A;T snv 0.700 0
dbSNP: rs1557177636
rs1557177636
4 0.851 0.120 X 154359897 frameshift variant G/- delins 0.700 0
dbSNP: rs1557177738
rs1557177738
4 0.851 0.120 X 154360266 stop gained C/A snv 0.700 0
dbSNP: rs1557179357
rs1557179357
4 0.851 0.120 X 154366618 stop gained -/TATTGGCGGT delins 0.700 0
dbSNP: rs1569551502
rs1569551502
4 0.851 0.120 X 154353958 frameshift variant G/- del 0.700 0
dbSNP: rs1569551861
rs1569551861
4 0.851 0.120 X 154367685 stop gained G/A snv 0.700 0