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: rs1129647
rs1129647
GABRA1
3 0.882 0.240 5 161854239 synonymous variant T/C snv 0.26 0.24 0.010 1.000 1 2016 2016
dbSNP: rs2290733
rs2290733
GABRA1
2 0.925 0.200 5 161899351 3 prime UTR variant T/C snv 1.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs2284932
rs2284932
KLF7
2 0.925 0.200 2 207147785 intron variant G/A snv 0.33 0.010 < 0.001 1 2015 2015
dbSNP: rs9371942
rs9371942
LOC101928923
4 0.882 0.200 6 155913388 intron variant A/G snv 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs551209435
rs551209435
HMBS
1 1.000 0.160 11 119090041 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1319782
rs1319782
KCNA3 ; LOC107985174
2 0.925 0.200 1 110668911 downstream gene variant C/T snv 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2640480
rs2640480
KCNA3 ; LOC107985174
2 0.925 0.200 1 110670626 downstream gene variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2840381
rs2840381
KCNA3 ; LOC107985174
2 0.925 0.200 1 110675201 upstream gene variant G/A snv 0.73 0.010 1.000 1 2011 2011
dbSNP: rs780020705
rs780020705
HMBS
1 1.000 0.160 11 119092783 missense variant C/G snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7045953
rs7045953
TLR4
2 0.925 0.200 9 117723517 3 prime UTR variant A/G snv 0.19 0.010 1.000 1 2009 2009
dbSNP: rs369855221
rs369855221
HMBS
2 1.000 0.160 11 119092797 missense variant A/G snv 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs761004837
rs761004837
HMBS
2 1.000 0.160 11 119089097 missense variant C/T snv 1.1E-04 4.9E-05 0.710 1.000 1 2008 2008
dbSNP: rs118204101
rs118204101
HMBS
1 1.000 0.160 11 119091413 missense variant C/T snv 3.8E-05 0.720 1.000 2 2000 2005
dbSNP: rs757988130
rs757988130
HMBS
1 1.000 0.160 11 119089686 stop gained G/A snv 2.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs974712040
rs974712040
HMBS
1 1.000 0.160 11 119088651 missense variant C/T snv 0.710 1.000 1 2000 2000
dbSNP: rs118204107
rs118204107
HMBS
1 1.000 0.160 11 119089747 missense variant G/A snv 0.710 1.000 1 1999 1999
dbSNP: rs1261947877
rs1261947877
HMBS
1 1.000 0.160 11 119092416 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.710 1.000 1 1998 1998
dbSNP: rs575222284
rs575222284
HMBS
1 1.000 0.160 11 119091431 missense variant C/T snv 1.3E-05 7.0E-06 0.730 1.000 3 1997 2006
dbSNP: rs1325031228
rs1325031228
HMBS
1 1.000 0.160 11 119092425 stop gained C/T snv 7.0E-06 0.010 1.000 1 1995 1995
dbSNP: rs118204109
rs118204109
HMBS
1 1.000 0.160 11 119091515 missense variant C/T snv 2.6E-05 3.5E-05 0.800 1.000 4 1994 2015
dbSNP: rs118204117
rs118204117
HMBS
1 1.000 0.160 11 119092958 stop gained G/A;C snv 1.2E-05 0.730 1.000 3 1994 2001
dbSNP: rs118204100
rs118204100
HMBS
1 1.000 0.160 11 119091507 stop gained G/A snv 0.720 1.000 2 1994 2000
dbSNP: rs118204094
rs118204094
HMBS
1 1.000 0.160 11 119089991 missense variant C/T snv 4.0E-06 7.0E-06 0.830 1.000 22 1991 2015
dbSNP: rs118204095
rs118204095
HMBS
3 1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 0.810 1.000 21 1991 2019
dbSNP: rs536814318
rs536814318
HMBS
1 1.000 0.160 11 119091446 missense variant G/A snv 5.0E-04 2.8E-05 0.810 1.000 21 1991 2015