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: rs761532715
rs761532715
PKDCC
3 1.000 2 42053250 stop gained C/A snv 0.700 1.000 5 2009 2014
dbSNP: rs1247427997
rs1247427997
TMCO1
4 1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2010 2014
dbSNP: rs1553249737
rs1553249737
TMCO1
4 1.000 1 165743263 stop gained G/T snv 0.700 1.000 4 2010 2014
dbSNP: rs34927195
rs34927195
NLGN3
2 1.000 X 71147958 frameshift variant -/G delins 0.700 1.000 4 2003 2014
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: 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: 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: 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: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 1.000 12 1997 2015
dbSNP: rs1557100594
rs1557100594
AVPR2
3 0.925 0.080 X 153905887 inframe deletion TAC/- delins 0.700 1.000 9 1999 2015
dbSNP: rs387906788
rs387906788
MAP3K1
2 1.000 5 56856683 missense variant T/A;C;G snv 0.700 1.000 5 2003 2015
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016
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: 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: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 19 1993 2016
dbSNP: rs773724817
rs773724817
KCNH2
4 0.925 0.160 7 150948861 stop gained G/A snv 4.0E-06 0.700 1.000 14 1999 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
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: rs1556836399
rs1556836399
KDM5C ; MIR6895
2 1.000 X 53195978 stop gained G/A snv 0.700 1.000 12 2005 2016