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: 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
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
dbSNP: rs118204116
rs118204116
HMBS
1 1.000 0.160 11 119092159 missense variant G/A;C snv 0.700 0
dbSNP: rs118204119
rs118204119
HMBS
1 1.000 0.160 11 119089248 missense variant T/C snv 0.700 0
dbSNP: rs118204120
rs118204120
HMBS
1 1.000 0.160 11 119090212 stop gained C/T snv 0.700 0
dbSNP: rs1334178100
rs1334178100
HMBS
1 1.000 0.160 11 119092768 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1555206128
rs1555206128
HMBS
1 1.000 0.160 11 119092417 inframe deletion AGTGCGAGCCAAGGACCAGGACATCTTGGA/- delins 0.700 0
dbSNP: rs1555206402
rs1555206402
HMBS
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1565754285
rs1565754285
HMBS
1 1.000 0.160 11 119089094 frameshift variant C/- delins 0.700 0
dbSNP: rs1565754296
rs1565754296
HMBS
1 1.000 0.160 11 119089098 frameshift variant -/G delins 0.700 0
dbSNP: rs1565754452
rs1565754452
HMBS
1 1.000 0.160 11 119089216 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1565754565
rs1565754565
HMBS
1 1.000 0.160 11 119089273 splice donor variant G/C snv 0.700 0
dbSNP: rs1565756481
rs1565756481
HMBS
1 1.000 0.160 11 119091412 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1565757839
rs1565757839
HMBS
1 1.000 0.160 11 119092480 frameshift variant CT/- delins 0.700 0
dbSNP: rs1565757857
rs1565757857
HMBS
1 1.000 0.160 11 119092481 frameshift variant -/TTCGCTGC delins 0.700 0
dbSNP: rs1565758008
rs1565758008
HMBS
1 1.000 0.160 11 119092524 splice donor variant G/C snv 0.700 0
dbSNP: rs1565758795
rs1565758795
HMBS
1 1.000 0.160 11 119092999 frameshift variant -/T delins 0.700 0
dbSNP: rs1565758825
rs1565758825
HMBS
1 1.000 0.160 11 119093009 frameshift variant T/- del 0.700 0