SLC30A10, solute carrier family 30 member 10, 55532

N. diseases: 120; N. variants: 22
Source: ALL
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: rs11118406
rs11118406 		1.000 0.040 1 219751552 intron variant T/A snv 0.60
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12024492
rs12024492 		1 219755939 intron variant C/A;G;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1418752
rs1418752 		1 219754087 intron variant T/C snv 0.60
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs1776029
rs1776029 		1 219906686 intron variant A/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs185048405
rs185048405 		1 219865483 intron variant C/T snv
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs2275707
rs2275707 		1 219914705 3 prime UTR variant C/A snv 0.85
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs2275707
rs2275707 		1 219914705 3 prime UTR variant C/A snv 0.85
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4846580
rs4846580 		1 219724599 intron variant G/A snv 0.40
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs5781151
rs5781151 		1 219912854 intron variant -/A;AA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519589
rs1057519589 		1.000 0.040 1 219927981 stop gained G/A snv
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
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
CUI: C2750442
Disease: Hypermanganesemia with Dystonia Polycythemia and Cirrhosis
Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 		Nutritional and Metabolic Diseases 0.700 0