Source: ALL
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: rs757823678
rs757823678
DNMT3A
2 1.000 0.160 2 25240312 missense variant C/A;T snv 4.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
dbSNP: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
dbSNP: rs869025411
rs869025411
FBN1
4 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs121918490
rs121918490
FGFR2
6 0.851 0.080 10 121517342 missense variant G/C snv 0.700 1.000 26 1985 2017
dbSNP: rs1555186842
rs1555186842
KMT2D
2 1.000 12 49030285 frameshift variant -/GTGCCCTT delins 0.700 1.000 25 1988 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs781978013
rs781978013
KMT2A
3 1.000 11 118472681 stop gained G/A;T snv 4.0E-06 0.700 1.000 22 1989 2017
dbSNP: rs1553156053
rs1553156053
SLC2A1
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 19 1993 2016
dbSNP: rs1555202806
rs1555202806
BBS10
3 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
dbSNP: rs5030857
rs5030857
PAH
3 0.925 0.120 12 102840507 missense variant G/A snv 6.0E-04 5.6E-04 0.700 1.000 17 1993 2015
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 17 1999 2013
dbSNP: rs62508588
rs62508588
PAH
3 1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 0.700 1.000 17 1993 2015
dbSNP: rs768933093
rs768933093
BBS10
10 0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05 0.700 1.000 17 1999 2013
dbSNP: rs778431173
rs778431173
BBS10
1 12 76346181 missense variant C/A;G snv 4.0E-06 7.0E-06 0.700 1.000 17 1999 2013
dbSNP: rs1555244216
rs1555244216
MED13L
2 1.000 12 115987290 splice acceptor variant T/C snv 0.700 1.000 16 1971 2018
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
4 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
dbSNP: rs1553268563
rs1553268563
USH2A
2 1 215845823 coding sequence variant C/- delins 0.700 1.000 15 2000 2015
dbSNP: rs80338903
rs80338903
USH2A
25 0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04 0.700 1.000 15 2000 2015
dbSNP: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 14 2006 2018