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: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 19 1993 2016
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
4 1.000 X 41334255 start lost G/C snv 0.700 1.000 16 1989 2017
dbSNP: rs1556836399
rs1556836399
KDM5C ; MIR6895
2 1.000 X 53195978 stop gained G/A snv 0.700 1.000 12 2005 2016
dbSNP: rs786205208
rs786205208
NEXMIF
4 0.925 X 74742675 stop gained G/A snv 0.700 1.000 11 2004 2017
dbSNP: rs1556220623
rs1556220623
CUL4B
2 1.000 X 120547191 stop gained G/A snv 0.700 1.000 10 2000 2017
dbSNP: rs886041382
rs886041382
WDR45
3 0.925 0.080 X 49078077 stop gained G/A snv 0.700 1.000 10 2010 2017
dbSNP: rs1557100594
rs1557100594
AVPR2
3 0.925 0.080 X 153905887 inframe deletion TAC/- delins 0.700 1.000 9 1999 2015
dbSNP: rs1556235119
rs1556235119
UBE2A
3 1.000 X 119574712 start lost A/G snv 0.700 1.000 8 2006 2017
dbSNP: rs1556039406
rs1556039406
NHS
2 1.000 X 17727350 frameshift variant C/- delins 0.700 1.000 7 2002 2014
dbSNP: rs34927195
rs34927195
NLGN3
2 1.000 X 71147958 frameshift variant -/G delins 0.700 1.000 4 2003 2014
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
dbSNP: rs1555850868
rs1555850868
KCNQ2
2 1.000 20 63407149 frameshift variant G/- delins 0.700 1.000 29 1980 2017
dbSNP: rs1555891562
rs1555891562
GNAS
3 1.000 20 58909707 missense variant G/A snv 0.700 1.000 10 1993 2017
dbSNP: rs121918608
rs121918608
AHCY
3 1.000 0.080 20 34292375 missense variant T/C snv 8.0E-05 9.1E-05 0.700 1.000 5 2006 2016
dbSNP: rs1555801973
rs1555801973
MKKS
1 20 10412669 frameshift variant -/T delins 0.700 1.000 5 1999 2016
dbSNP: rs1555565243
rs1555565243
RAI1
3 1.000 17 17794617 frameshift variant CT/- delins 0.700 1.000 9 2004 2016
dbSNP: rs797045865
rs797045865
PAFAH1B1
3 0.925 0.080 17 2674088 frameshift variant GA/- delins 0.700 1.000 6 1997 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: rs1555625571
rs1555625571
TUBB3
2 16 89934974 missense variant G/C snv 0.700 1.000 10 2010 2016
dbSNP: rs567573386
rs567573386
BBS2
5 0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 0.700 1.000 3 2007 2013
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: rs1555440555
rs1555440555
CHD2
2 1.000 15 92953386 missense variant T/C snv 0.700 1.000 12 2007 2017
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: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016