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: 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: 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: rs998842815
rs998842815
HMBS
1 1.000 0.160 11 119088297 missense variant C/T snv 4.0E-06 0.700 1.000 20 1991 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: 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: 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: 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: 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: 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: 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: rs118204105
rs118204105
HMBS
1 1.000 0.160 11 119088647 missense variant C/A snv 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
dbSNP: rs118204112
rs118204112
HMBS
1 1.000 0.160 11 119092500 missense variant G/A snv 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