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: 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: rs1553794464
rs1553794464
ZBTB20 ; ZBTB20-AS1
2 1.000 3 114350821 frameshift variant -/C delins 0.700 1.000 7 2009 2017
dbSNP: rs34927195
rs34927195
NLGN3
2 1.000 X 71147958 frameshift variant -/G delins 0.700 1.000 4 2003 2014
dbSNP: rs387906309
rs387906309
HEXA
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 11 1986 2011
dbSNP: rs1555186842
rs1555186842
KMT2D
2 1.000 12 49030285 frameshift variant -/GTGCCCTT delins 0.700 1.000 25 1988 2017
dbSNP: rs1555801973
rs1555801973
MKKS
1 20 10412669 frameshift variant -/T delins 0.700 1.000 5 1999 2016
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
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: 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: rs869025411
rs869025411
FBN1
4 0.925 0.160 15 48432911 missense variant A/G snv 0.700 1.000 29 1986 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
dbSNP: rs1556235119
rs1556235119
UBE2A
3 1.000 X 119574712 start lost A/G snv 0.700 1.000 8 2006 2017
dbSNP: rs28940579
rs28940579
MEFV
13 0.732 0.440 16 3243310 missense variant A/G;T snv 2.2E-03; 4.0E-06 0.700 1.000 12 1967 2017
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1553631770
rs1553631770
CTNNB1
4 1.000 3 41233398 missense variant A/T snv 0.700 1.000 22 1991 2017
dbSNP: rs1555202806
rs1555202806
BBS10
3 1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 0.700 1.000 17 1999 2013
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs1553549717
rs1553549717
SCN1A ; SCN1A-AS1
2 1.000 2 166051871 frameshift variant C/- delins 0.700 1.000 19 1997 2014
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: rs1556039406
rs1556039406
NHS
2 1.000 X 17727350 frameshift variant C/- delins 0.700 1.000 7 2002 2014
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs1554931219
rs1554931219
BDNF ; BDNF-AS
2 11 27658063 stop gained C/A snv 0.700 1.000 6 2001 2018
dbSNP: rs761532715
rs761532715
PKDCC
3 1.000 2 42053250 stop gained C/A snv 0.700 1.000 5 2009 2014