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: 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: 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: 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: 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: 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: rs1057519927
rs1057519927
PIK3CA
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 14 2006 2018
dbSNP: rs1060500126
rs1060500126
PTEN
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 1.000 14 2001 2015
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
dbSNP: rs1554898088
rs1554898088
PTEN
2 1.000 10 87933066 frameshift variant CC/-;C delins 0.700 1.000 14 2001 2015
dbSNP: rs867262025
rs867262025
PIK3CA
10 0.790 0.360 3 179221146 missense variant G/A snv 0.700 1.000 14 2006 2018
dbSNP: rs1553283037
rs1553283037
HNRNPU
2 1.000 1 244860382 missense variant T/C snv 0.700 1.000 13 2010 2017
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
dbSNP: rs587777618
rs587777618
CCND2
4 0.925 12 4299977 missense variant A/G snv 0.700 1.000 13 2004 2018
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015