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: rs1554767313
rs1554767313
1 9 128203597 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs797044897
rs797044897
1 19 41984940 missense variant T/C snv 0.700 1.000 27 1988 2017
dbSNP: rs1554770046
rs1554770046
1 9 137162184 missense variant A/C snv 0.700 1.000 25 1983 2017
dbSNP: rs1553632361
rs1553632361
1 3 41236468 frameshift variant AG/- delins 0.700 1.000 22 1991 2017
dbSNP: rs746547282
rs746547282
1 3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 22 1992 2017
dbSNP: rs1553547885
rs1553547885
1 2 199328831 missense variant A/C snv 0.700 1.000 21 1989 2017
dbSNP: rs1554237050
rs1554237050
1 6 157206240 frameshift variant A/- delins 0.700 1.000 20 1984 2017
dbSNP: rs1554603589
rs1554603589
1 8 60850623 splice donor variant G/A snv 0.700 1.000 20 1999 2016
dbSNP: rs1555573789
rs1555573789
1 17 50194591 frameshift variant AT/- del 0.700 1.000 20 1957 2017
dbSNP: rs1555905780
rs1555905780
1 22 41117361 frameshift variant C/- delins 0.700 1.000 19 1963 2016
dbSNP: rs1555907278
rs1555907278
1 22 41127646 stop gained C/T snv 0.700 1.000 19 1963 2016
dbSNP: rs1557136758
rs1557136758
1 X 154031215 frameshift variant -/T delins 0.700 1.000 19 1993 2016
dbSNP: rs1554120894
rs1554120894
1 6 33435150 splice acceptor variant A/G snv 0.700 1.000 18 2004 2017
dbSNP: rs1554122402
rs1554122402
1 6 33443961 splice donor variant G/A snv 0.700 1.000 18 2004 2017
dbSNP: rs1554304258
rs1554304258
1 6 33420307 frameshift variant G/- del 0.700 1.000 18 2004 2017
dbSNP: rs1555302454
rs1555302454
1 13 110170615 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1554128999
rs1554128999
1 5 140114186 frameshift variant GACCG/- delins 0.700 1.000 17 1991 2018
dbSNP: rs1555951954
rs1555951954
1 X 18604030 frameshift variant AAACCTTGCTGGAG/- delins 0.700 1.000 17 2004 2016
dbSNP: rs1255183431
rs1255183431
1 X 41344238 splice acceptor variant G/C;T snv 0.700 1.000 16 1989 2017
dbSNP: rs1555239936
rs1555239936
1 12 115963489 stop gained G/A snv 0.700 1.000 16 1971 2018
dbSNP: rs1555954414
rs1555954414
1 X 41347013 splice donor variant G/A snv 0.700 1.000 16 1989 2017
dbSNP: rs1556889640
rs1556889640
1 X 53405893 frameshift variant C/- delins 0.700 1.000 16 1995 2017
dbSNP: rs1555321345
rs1555321345
1 14 28768011 frameshift variant CCACTACGAC/- del 0.700 1.000 15 1989 2017
dbSNP: rs1554818540
rs1554818540
RET
1 10 43111366 frameshift variant -/G delins 0.700 1.000 12 1994 2012
dbSNP: rs1555162486
rs1555162486
1 12 49186402 missense variant C/A snv 0.700 1.000 11 2007 2016