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: rs730882229
rs730882229
PTPN23
3 0.882 0.040 3 47411889 missense variant G/A;T snv 8.0E-06 0.700 0
dbSNP: rs730882242
rs730882242
DIAPH1
7 0.807 0.280 5 141573518 stop gained G/A snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
4 0.851 0.160 12 51790401 stop gained G/A;T snv 0.700 0
dbSNP: rs80359826
rs80359826
SLC2A1
7 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
4 0.925 0.120 11 66529902 frameshift variant -/T delins 0.700 0
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 1999 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2004 2013
dbSNP: rs63750231
rs63750231
PSEN1
23 0.689 0.160 14 73198100 missense variant A/C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.750 32 2005 2018
dbSNP: rs121918628
rs121918628
SCN1A ; SCN1A-AS1 ; LOC102724058
5 0.851 0.080 2 165998049 missense variant G/T snv 0.010 1.000 1 2005 2005
dbSNP: rs1285524167
rs1285524167
ABCC8
8 0.807 0.280 11 17475004 missense variant C/T snv 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs193929353
rs193929353
KCNJ11
4 0.882 0.120 11 17387206 missense variant T/C;G snv 0.010 1.000 1 2005 2005
dbSNP: rs281865071
rs281865071
CHRNB2
5 0.882 0.080 1 154571759 missense variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs80356616
rs80356616
KCNJ11
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2005 2005
dbSNP: rs80356617
rs80356617
KCNJ11
3 0.882 0.160 11 17387916 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs80356624
rs80356624
KCNJ11
16 0.752 0.240 11 17387490 missense variant C/A;T snv 0.010 1.000 1 2005 2005
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.030 1.000 3 2006 2015
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2007 2018
dbSNP: rs193929358
rs193929358
KCNJ11
5 0.851 0.240 11 17387091 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
3 0.925 0.120 13 77000517 missense variant T/G snv 0.010 1.000 1 2007 2007
dbSNP: rs4906902
rs4906902
GABRB3
14 0.724 0.200 15 26774621 intron variant A/G snv 0.15 0.010 1.000 1 2007 2007
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs118192249
rs118192249
KCNQ3
3 0.882 0.080 8 132175461 missense variant A/G snv 4.0E-06 0.010 1.000 1 2008 2008