PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) ×
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: rs121908681
rs121908681 		0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs121908683
rs121908683 		0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs587784343
rs587784343 		0.925 0.080 22 38113617 inframe deletion AAC/- delins
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121908680
rs121908680 		0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908687
rs121908687 		0.882 0.080 22 38112541 missense variant G/A snv 2.6E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs149712244
rs149712244 		1.000 0.080 22 38116155 missense variant C/T snv 3.6E-05 8.4E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555978219
rs1555978219 		1.000 0.080 22 38115585 missense variant T/C snv
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555988382
rs1555988382 		1.000 0.080 22 38123180 missense variant C/G snv
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569243771
rs1569243771 		1.000 0.080 22 38115690 non coding transcript exon variant G/- delins
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587784330
rs587784330 		1.000 0.080 22 38123244 missense variant A/T snv 5.9E-06
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587784350
rs587784350 		1.000 0.080 22 38112547 missense variant G/A snv 7.0E-06
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587784353
rs587784353 		0.925 0.080 22 38112211 stop gained CA/- del 3.3E-05 2.8E-05
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750939090
rs750939090 		0.882 0.080 22 38126370 splice donor variant C/T snv 8.0E-06 7.0E-06
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045888
rs797045888 		1.000 0.080 22 38126451 splice acceptor variant T/C snv
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs797045889
rs797045889 		1.000 0.080 22 38132960 inframe insertion -/CGG delins
CUI: C1857747
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0