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: rs1057521126
rs1057521126
HMBS
1 1.000 0.160 11 119092785 missense variant G/A snv 0.700 1.000 20 1991 2015
dbSNP: rs118204096
rs118204096
HMBS
3 1.000 0.160 11 119091432 missense variant G/A snv 0.800 1.000 20 1991 2015
dbSNP: rs118204098
rs118204098
HMBS
1 1.000 0.160 11 119090213 missense variant G/A snv 0.800 1.000 20 1991 2015
dbSNP: rs118204099
rs118204099
HMBS
1 1.000 0.160 11 119092486 missense variant T/G snv 0.800 1.000 20 1991 2015
dbSNP: rs1205219549
rs1205219549
HMBS
1 1.000 0.160 11 119092156 missense variant T/A snv 0.710 1.000 20 1991 2015
dbSNP: rs118204100
rs118204100
HMBS
1 1.000 0.160 11 119091507 stop gained G/A snv 0.720 1.000 2 1994 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: 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: 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: 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: 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: 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: 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: 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: 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: rs974712040
rs974712040
HMBS
1 1.000 0.160 11 119088651 missense variant C/T snv 0.710 1.000 1 2000 2000
dbSNP: rs118204097
rs118204097
HMBS
1 1.000 0.160 11 119090230 stop gained C/T snv 0.700 0
dbSNP: rs118204103
rs118204103
HMBS
1 1.000 0.160 11 119088298 missense variant G/A snv 0.700 0
dbSNP: rs118204104
rs118204104
HMBS
1 1.000 0.160 11 119088638 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs118204105
rs118204105
HMBS
1 1.000 0.160 11 119088647 missense variant C/A snv 0.700 0
dbSNP: rs118204106
rs118204106
HMBS
1 1.000 0.160 11 119089084 missense variant G/T snv 7.0E-06 0.700 0
dbSNP: rs118204108
rs118204108
HMBS
1 1.000 0.160 11 119091444 missense variant T/G snv 0.700 0
dbSNP: rs118204110
rs118204110
HMBS
1 1.000 0.160 11 119092419 stop gained G/A snv 0.700 0
dbSNP: rs118204111
rs118204111
HMBS
1 1.000 0.160 11 119092491 missense variant T/C snv 0.700 0