Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519589
rs1057519589
1.000 0.040 1 219927981 stop gained G/A snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057519590
rs1057519590
1.000 0.040 1 219927949 frameshift variant G/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553313783
rs1553313783
1.000 0.040 1 219927888 frameshift variant GGCTGTCGGGTCCGCCGCGCGCCGCGGGTCCTCCGCGCCCTGAGGCCCCCCGAAAGCG/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553313839
rs1553313839
1.000 0.040 1 219928039 inframe deletion AGCAGCCCCACCACGTTGACCAACAGCCCCAGGACGCCGACGATGAGCACCAGCTCGGGGTCATCGATGCGCTCGGGCCGGGCCAGGCGCAGCACGGCCTCCACGAAGATG/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860284
rs281860284
1.000 0.040 1 219928175 missense variant A/G snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860285
rs281860285
1.000 0.040 1 219928119 inframe deletion GGGCCGGGC/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860286
rs281860286
1.000 0.040 1 219927941 missense variant A/G snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860287
rs281860287
1.000 0.040 1 219927934 frameshift variant C/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860288
rs281860288
1.000 0.040 1 219927856 frameshift variant C/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860289
rs281860289
1.000 0.040 1 219918446 inframe deletion CAC/- delins
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860290
rs281860290
1.000 0.040 1 219918291 stop gained G/A snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860291
rs281860291
1.000 0.040 1 219915861 missense variant A/G snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281860292
rs281860292
1.000 0.040 1 219915672 frameshift variant T/- del
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs770740586
rs770740586
1.000 0.040 1 219915901 missense variant G/A snv
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Nutritional and Metabolic Diseases 0.700 0