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: rs25925
rs25925
CAMK4
2 0.925 0.040 5 111484055 synonymous variant G/C snv 0.75 0.83 0.010 1.000 1 2014 2014
dbSNP: rs465899
rs465899
APC
3 0.882 0.160 5 112841474 synonymous variant G/A snv 0.65 0.60 0.010 1.000 1 2007 2007
dbSNP: rs1804197
rs1804197
APC
2 1.000 0.040 5 112844212 3 prime UTR variant C/A snv 7.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2010 2010
dbSNP: rs167771
rs167771
DRD3
5 0.827 0.280 3 114157428 intron variant G/A;T snv 0.030 1.000 3 2013 2015
dbSNP: rs12531289
rs12531289
FOXP2
2 1.000 0.040 7 114600061 intron variant T/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs1350135
rs1350135
FOXP2
2 1.000 0.040 7 114602621 intron variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10230087
rs10230087
FOXP2
2 1.000 0.040 7 114614352 intron variant G/A snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs2061183
rs2061183
FOXP2
2 1.000 0.040 7 114617959 intron variant C/G snv 0.73 0.010 1.000 1 2014 2014
dbSNP: rs201292141
rs201292141
CADM1
1 1.000 0.040 11 115217961 missense variant T/G snv 3.9E-04 9.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1858830
rs1858830
MET
4 0.925 0.040 7 116672385 5 prime UTR variant C/G snv 0.40 0.070 1.000 7 2007 2014
dbSNP: rs2896218
rs2896218
WNT2
2 0.925 0.040 7 117279924 intron variant G/A snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs6950765
rs6950765
WNT2
2 0.925 0.040 7 117281176 intron variant C/G snv 0.64 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2009 2019
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1565532385
rs1565532385
UBE4A
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0
dbSNP: rs193024911
rs193024911
SYN2
1 1.000 0.040 3 12151259 missense variant A/C;G snv 2.0E-05; 1.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs762457833
rs762457833
SYN2
1 1.000 0.040 3 12187389 missense variant G/C snv 9.8E-05 2.8E-05 0.010 1.000 1 2014 2014
dbSNP: rs201551401
rs201551401
GPR37
3 0.925 0.040 7 124746694 missense variant C/T snv 6.4E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs375712202
rs375712202
HEPACAM ; LOC107984406
1 1.000 0.040 11 124923339 splice donor variant C/T snv 9.6E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1881084
rs1881084
SND1
2 0.925 0.040 7 127704626 intron variant G/A snv 0.33 0.010 1.000 1 2010 2010
dbSNP: rs370911031
rs370911031
NCS1
2 0.925 0.040 9 130219801 missense variant G/A snv 1.5E-04 8.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs886037776
rs886037776
EHMT1
2 0.925 0.280 9 137817477 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs28364997
rs28364997
SLC6A3
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.030 1.000 3 2014 2018