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: rs1565754296
rs1565754296
HMBS
1 1.000 0.160 11 119089098 frameshift variant -/G delins 0.700 0
dbSNP: rs1565758795
rs1565758795
HMBS
1 1.000 0.160 11 119092999 frameshift variant -/T delins 0.700 0
dbSNP: rs1565757857
rs1565757857
HMBS
1 1.000 0.160 11 119092481 frameshift variant -/TTCGCTGC delins 0.700 0
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: rs772471000
rs772471000
HMBS
1 1.000 0.160 11 119092146 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs150763621
rs150763621
HMBS
1 1.000 0.160 11 119089263 stop gained A/T snv 8.3E-04 5.0E-04 0.700 1.000 20 1991 2015
dbSNP: rs1555206128
rs1555206128
HMBS
1 1.000 0.160 11 119092417 inframe deletion AGTGCGAGCCAAGGACCAGGACATCTTGGA/- delins 0.700 0
dbSNP: rs1565754285
rs1565754285
HMBS
1 1.000 0.160 11 119089094 frameshift variant C/- delins 0.700 0
dbSNP: rs118204105
rs118204105
HMBS
1 1.000 0.160 11 119088647 missense variant C/A snv 0.700 0
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: rs118204115
rs118204115
HMBS
1 1.000 0.160 11 119092518 missense variant C/A;G snv 0.700 0
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: rs189159450
rs189159450
HMBS
1 1.000 0.160 11 119088285 missense variant C/G;T snv 4.0E-06; 1.6E-05 2.1E-05 0.700 0
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: 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: 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: 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: 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: 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: 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: 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