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: rs199476359
rs199476359
ARSA
1 1.000 0.120 22 50626216 missense variant G/A snv 0.800 0
dbSNP: rs1057516373
rs1057516373
ARSA
1 1.000 0.120 22 50626842 frameshift variant -/TA delins 0.700 0
dbSNP: rs1057516595
rs1057516595
ARSA
1 1.000 0.120 22 50627403 frameshift variant -/TA ins 0.700 0
dbSNP: rs1057516638
rs1057516638
ARSA
1 1.000 0.120 22 50626204 frameshift variant C/- delins 0.700 0
dbSNP: rs1057516887
rs1057516887
ARSA
1 1.000 0.120 22 50626151 splice donor variant ACCG/- delins 0.700 0
dbSNP: rs1057516907
rs1057516907
ARSA
1 1.000 0.120 22 50626973 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517044
rs1057517044
ARSA
1 1.000 0.120 22 50627054 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1057517073
rs1057517073
ARSA
1 1.000 0.120 22 50626242 frameshift variant G/- delins 0.700 0
dbSNP: rs1057517346
rs1057517346
ARSA
1 1.000 0.120 22 50627023 frameshift variant -/G delins 0.700 0
dbSNP: rs1135401754
rs1135401754
ARSA
1 1.000 0.120 22 50627682 missense variant A/G snv 0.700 0
dbSNP: rs1135401755
rs1135401755
ARSA
1 1.000 0.120 22 50626973 missense variant G/C snv 0.700 0
dbSNP: rs1135401756
rs1135401756
ARSA
1 1.000 0.120 22 50626593 missense variant A/T snv 0.700 0
dbSNP: rs1135401757
rs1135401757
ARSA
1 1.000 0.120 22 50625401 missense variant T/C snv 0.700 0
dbSNP: rs121434215
rs121434215
ARSA
2 0.925 0.120 22 50627221 missense variant A/G snv 0.700 0
dbSNP: rs148403406
rs148403406
ARSA
1 1.000 0.120 22 50626862 missense variant C/T snv 5.6E-05 2.1E-04 0.700 0
dbSNP: rs1555900150
rs1555900150
ARSA
1 1.000 0.120 22 50625352 frameshift variant G/- del 0.700 0
dbSNP: rs1555900191
rs1555900191
ARSA
1 1.000 0.120 22 50625443 frameshift variant TATCACTGTGG/- delins 0.700 0
dbSNP: rs1555900463
rs1555900463
ARSA
1 1.000 0.120 22 50626007 frameshift variant C/- delins 0.700 0
dbSNP: rs1555900623
rs1555900623
ARSA
1 1.000 0.120 22 50626207 frameshift variant -/C delins 0.700 0
dbSNP: rs1555900989
rs1555900989
ARSA
1 1.000 0.120 22 50627164 splice donor variant A/T snv 0.700 0
dbSNP: rs1555901056
rs1555901056
ARSA
1 1.000 0.120 22 50627335 frameshift variant -/G delins 0.700 0
dbSNP: rs1555901108
rs1555901108
ARSA
1 1.000 0.120 22 50627555 splice donor variant C/T snv 0.700 0
dbSNP: rs1555901112
rs1555901112
ARSA
1 1.000 0.120 22 50627571 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs1555901170
rs1555901170
ARSA
1 1.000 0.120 22 50627778 start lost A/G snv 0.700 0
dbSNP: rs1569077723
rs1569077723
ARSA
1 1.000 0.120 22 50625586 inframe deletion AAG/- delins 0.700 0