Source: BEFREE ×
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: rs118203984
rs118203984
ALDH5A1
1 0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1294028027
rs1294028027
ZNF436
1 1.000 0.080 1 23363066 missense variant A/G snv 4.0E-06 0.020 1.000 2 2008 2009
dbSNP: rs1305079529
rs1305079529
RIMS2
1 1.000 0.080 8 104014516 missense variant C/T snv 8.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs1339220115
rs1339220115
BDNF ; BDNF-AS
1 1.000 0.080 11 27658119 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1349681470
rs1349681470
BDNF ; BDNF-AS
1 1.000 0.080 11 27658333 missense variant G/A snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs138747073
rs138747073
FOXG1
1 0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs1397094538
rs1397094538
ZNF436 ; ZNF436-AS1
3 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1411125204
rs1411125204
RIMS2
1 1.000 0.080 8 103885593 missense variant C/T snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs179363900
rs179363900
MECP2
1 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.710 1.000 1 2009 2009
dbSNP: rs267606827
rs267606827
FOXG1
2 0.925 0.120 14 28768203 stop gained G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs267608454
rs267608454
MECP2
1 1.000 0.080 X 154032226 missense variant A/C snv 0.720 1.000 2 1999 2018
dbSNP: rs267608475
rs267608475
MECP2
2 0.925 0.120 X 154031415 stop gained A/G;T snv 0.710 1.000 1 1999 1999
dbSNP: rs267608563
rs267608563
MECP2
2 0.925 0.080 X 154030763 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608591
rs267608591
MECP2
1 1.000 0.080 X 154030643 splice acceptor variant TCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.710 1.000 1 2016 2016
dbSNP: rs267608595
rs267608595
MECP2
1 1.000 0.080 X 154030662 frameshift variant GTGGGGG/-;G delins 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs267608597
rs267608597
MECP2
2 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.010 1.000 1 2007 2007
dbSNP: rs28934904
rs28934904
MECP2
5 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.880 1.000 8 1999 2017
dbSNP: rs28934905
rs28934905
MECP2
1 1.000 0.080 X 154031364 missense variant A/C;G snv 0.810 1.000 1 1999 2017
dbSNP: rs28934906
rs28934906
MECP2
8 0.716 0.320 X 154031355 missense variant G/A snv 0.900 1.000 11 1999 2017
dbSNP: rs28934907
rs28934907
MECP2
2 0.732 0.320 X 154032268 missense variant G/A;C snv 0.840 1.000 4 1999 2017
dbSNP: rs28934908
rs28934908
MECP2
12 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.710 1.000 1 2002 2016
dbSNP: rs28935468
rs28935468
MECP2
4 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 7 1999 2017
dbSNP: rs529730514
rs529730514
UBE2V1 ; TMEM189-UBE2V1
1 1.000 0.080 20 50082839 missense variant G/A snv 4.0E-06 0.020 1.000 2 2008 2009
dbSNP: rs61748381
rs61748381
MECP2
1 1.000 0.080 X 154031226 missense variant G/A snv 1.4E-03 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs61748383
rs61748383
MECP2
1 1.000 0.080 X 154031445 missense variant T/G snv 0.710 1.000 1 1999 2017