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: rs1085308006
rs1085308006
IDS
1 1.000 0.160 X 149496419 missense variant T/A snv 0.700 0
dbSNP: rs113993945
rs113993945
IDS
1 1.000 0.160 X 149498132 missense variant G/T snv 0.700 0
dbSNP: rs113993947
rs113993947
IDS
1 1.000 0.160 X 149498308 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs113993952
rs113993952
IDS
1 1.000 0.160 X 149503494 splice region variant T/A snv 0.700 0
dbSNP: rs113993953
rs113993953
IDS
1 1.000 0.160 X 149490436 missense variant T/A;C snv 1.6E-04 0.700 0
dbSNP: rs113993954
rs113993954
IDS
1 1.000 0.160 X 149504185 missense variant C/T snv 0.700 0
dbSNP: rs113993955
rs113993955
IDS
1 1.000 0.160 X 149504216 missense variant A/G snv 0.700 0
dbSNP: rs1557338127
rs1557338127
IDS
1 1.000 0.160 X 149486999 stop gained G/A;T snv 0.700 0
dbSNP: rs1557338131
rs1557338131
IDS
1 1.000 0.160 X 149487006 missense variant T/A snv 0.700 0
dbSNP: rs1557339887
rs1557339887
IDS
1 1.000 0.160 X 149500978 inframe deletion GAT/- delins 0.700 0
dbSNP: rs1557340403
rs1557340403
IDS
1 1.000 0.160 X 149504201 stop gained G/A snv 0.700 0
dbSNP: rs1557340558
rs1557340558
IDS
1 1.000 0.160 X 149505035 splice acceptor variant CTGTGGTCGAGTTGGCCTGCGTTTCGGATCCGAGGGCGACGCAGACGGAGCTCAGAACCAGACCCAGCCAGAGAAGGCCTCGGCCGGTCCGGGGTGGCGGCATTTCGGCTTCGACGCGGCCGCTTCAGAGCGGCGGGGACAGGCTGCAGCAGGTGGCGCAGTTAGCAGCCGCCGCCGCAGCCACAGAGACCTCCTCGTCGGGAACCCATGAAGACTGCGCAACACAGCCGCCGCCCGGGCCCGCAGGCCCGGGCGCTGGCCGCAGCGCGAGTGCGTCCGTGCGACTCTTCCCTGCGTCCCTCCCCTCCGGGGCGGGTTCT/- del 0.700 0
dbSNP: rs193302906
rs193302906
IDS
1 1.000 0.160 X 149487072 missense variant A/T snv 0.700 0
dbSNP: rs193302907
rs193302907
IDS
1 1.000 0.160 X 149496405 stop gained C/A snv 0.700 0
dbSNP: rs193302908
rs193302908
IDS
1 1.000 0.160 X 149501031 missense variant G/T snv 0.700 0
dbSNP: rs193302910
rs193302910
IDS
1 1.000 0.160 X 149503329 missense variant C/T snv 0.700 0
dbSNP: rs193302912
rs193302912
IDS
1 1.000 0.160 X 149490385 missense variant C/T snv 0.700 0
dbSNP: rs193302913
rs193302913
IDS
1 1.000 0.160 X 149490411 frameshift variant AG/- delins 0.700 0
dbSNP: rs199422230
rs199422230
IDS
1 1.000 0.160 X 149482974 stop gained C/T snv 0.700 0
dbSNP: rs483352904
rs483352904
IDS
1 1.000 0.160 X 149498305 frameshift variant GT/- delins 0.700 0
dbSNP: rs483352905
rs483352905
IDS
1 1.000 0.160 X 149503379 inframe deletion GAG/- delins 0.700 0
dbSNP: rs781997631
rs781997631
IDS
1 1.000 0.160 X 149504206 missense variant A/G;T snv 5.6E-06 0.700 0
dbSNP: rs864622771
rs864622771
IDS
1 1.000 0.160 X 149487089 missense variant A/G snv 0.700 0
dbSNP: rs864622774
rs864622774
IDS
1 1.000 0.160 X 149500987 missense variant G/A snv 0.700 0
dbSNP: rs864622775
rs864622775
IDS
1 1.000 0.160 X 149505101 frameshift variant AGAGAAGGCCTCGGCC/- delins 0.700 0