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: rs1007859875
rs1007859875
HMBS
1 1.000 0.160 11 119092137 missense variant G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1057521126
rs1057521126
HMBS
1 1.000 0.160 11 119092785 missense variant G/A snv 0.700 1.000 20 1991 2015
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: rs1165046276
rs1165046276
HMBS
1 1.000 0.160 11 119089992 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 20 1991 2015
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: rs118204096
rs118204096
HMBS
3 1.000 0.160 11 119091432 missense variant G/A snv 0.800 1.000 20 1991 2015
dbSNP: rs118204097
rs118204097
HMBS
1 1.000 0.160 11 119090230 stop gained C/T snv 0.700 0
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: rs118204100
rs118204100
HMBS
1 1.000 0.160 11 119091507 stop gained G/A snv 0.720 1.000 2 1994 2000
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: 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: rs118204107
rs118204107
HMBS
1 1.000 0.160 11 119089747 missense variant G/A snv 0.710 1.000 1 1999 1999
dbSNP: rs118204108
rs118204108
HMBS
1 1.000 0.160 11 119091444 missense variant T/G snv 0.700 0
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: 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
dbSNP: rs118204112
rs118204112
HMBS
1 1.000 0.160 11 119092500 missense variant G/A snv 0.700 0
dbSNP: rs118204113
rs118204113
HMBS
1 1.000 0.160 11 119092506 missense variant G/A snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs118204114
rs118204114
HMBS
1 1.000 0.160 11 119092507 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs118204115
rs118204115
HMBS
1 1.000 0.160 11 119092518 missense variant C/A;G snv 0.700 0