Source: CURATED ×
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: 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: rs781768965
rs781768965
PTCH1
3 1.000 9 95508175 stop gained C/A;G snv 4.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs766413410
rs766413410
AGK
4 0.925 0.080 7 141615468 splice region variant C/A;G;T snv 1.2E-05; 2.8E-05; 2.8E-05 0.700 1.000 6 2012 2017
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: rs62508588
rs62508588
PAH
2 1.000 0.120 12 102852929 missense variant C/A;T snv 7.6E-05 0.700 1.000 17 1993 2015
dbSNP: rs121909231
rs121909231
PTEN
29 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 1.000 14 2001 2015
dbSNP: rs977277400
rs977277400
MYBPC3
2 11 47336012 splice acceptor variant C/G snv 0.700 1.000 7 1995 2013
dbSNP: rs1554499814
rs1554499814
EZH2
2 1.000 7 148829806 missense variant C/G snv 0.700 1.000 5 1998 2013
dbSNP: rs1553479216
rs1553479216
SCN9A ; SCN1A-AS1
1 2 166228902 stop gained C/T snv 0.700 1.000 21 1995 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
dbSNP: rs1554062562
rs1554062562
TRIO
3 1.000 5 14359442 stop gained C/T snv 0.700 1.000 9 1996 2017
dbSNP: rs368820286
rs368820286
ALDH7A1
3 1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 0.700 1.000 9 1996 2013
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
4 0.925 0.040 12 21817283 missense variant C/T snv 0.700 1.000 8 1999 2013
dbSNP: rs730882175
rs730882175
KCNH1
3 1.000 0.120 1 210804143 missense variant C/T snv 0.700 1.000 8 1998 2016
dbSNP: rs758737171
rs758737171
GCK
2 0.925 0.040 7 44145210 missense variant C/T snv 2.9E-05 1.4E-05 0.700 1.000 5 2004 2016
dbSNP: rs142441643
rs142441643
SDHA
12 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 1.000 4 2010 2017
dbSNP: rs397514698
rs397514698
GNAQ
41 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs1554898088
rs1554898088
PTEN
2 1.000 10 87933066 frameshift variant CC/-;C delins 0.700 1.000 14 2001 2015
dbSNP: rs1555565243
rs1555565243
RAI1
3 1.000 17 17794617 frameshift variant CT/- delins 0.700 1.000 9 2004 2016
dbSNP: rs80359636
rs80359636
BRCA2
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0
dbSNP: rs774152851
rs774152851
CHD8 ; SNORD9
2 1.000 14 21394188 frameshift variant G/-;GG delins 0.700 1.000 12 2008 2017
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016