PLA2G6, phospholipase A2 group VI, 8398

N. diseases: 350; N. variants: 102
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: rs121908687
rs121908687 		0.882 0.080 22 38112541 missense variant G/A snv 2.6E-05
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		Nervous System Diseases 0.800 1.000 4 2009 2016
dbSNP: rs121908682
rs121908682 		1.000 0.040 22 38132979 missense variant A/T snv 1.1E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.800 1.000 3 2006 2013
dbSNP: rs5756931
rs5756931 		22 38150026 non coding transcript exon variant T/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 3 2010 2018
dbSNP: rs121908686
rs121908686 		0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		Nervous System Diseases 0.800 1.000 2 2009 2013
dbSNP: rs2277844
rs2277844 		22 38181508 intron variant G/A snv 0.53
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 2 2012 2016
dbSNP: rs2284063
rs2284063 		0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.800 1.000 2 2009 2017
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: rs2284063
rs2284063 		0.851 0.160 22 38148291 non coding transcript exon variant A/G snv 0.40
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.800 1.000 1 2009 2009
dbSNP: rs738322
rs738322 		0.925 0.040 22 38172999 intron variant A/G snv 0.52
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.800 1.000 1 2011 2011
dbSNP: rs587784327
rs587784327 		1.000 0.040 22 38129523 missense variant C/T snv
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.710 1.000 6 2009 2017
dbSNP: rs121908686
rs121908686 		0.882 0.120 22 38112558 missense variant C/T snv 9.0E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.710 1.000 5 2009 2016
dbSNP: rs132985
rs132985 		0.827 0.120 22 38167464 intron variant C/T snv 0.51
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.710 1.000 2 2009 2012
dbSNP: rs199935023
rs199935023 		0.882 0.040 22 38132917 missense variant C/A;T snv 4.9E-05; 3.6E-05
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		Nervous System Diseases 0.710 < 0.001 1 2017 2017
dbSNP: rs121908680
rs121908680 		0.882 0.080 22 38112212 stop gained A/C snv 8.2E-05 6.3E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 7 2006 2016
dbSNP: rs587784339
rs587784339 		1.000 0.040 22 38115658 stop gained G/A snv 4.8E-05 7.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs200075782
rs200075782 		1.000 0.040 22 38169318 stop gained G/A snv 3.6E-05 1.4E-05
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 3 2006 2010
dbSNP: rs767689496
rs767689496 		1.000 0.040 22 38115579 missense variant G/A snv 8.0E-06
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		Nervous System Diseases 0.700 1.000 3 2006 2013
dbSNP: rs11450220
rs11450220 		22 38211527 intron variant -/G delins 0.58
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs11914181
rs11914181 		22 38206133 intron variant T/C snv 0.56
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
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: rs132941
rs132941 		1.000 0.040 22 38149935 non coding transcript exon variant T/A;C snv
CUI: C0027960
Disease: Nevus
Nevus 		Neoplasms 0.700 1.000 1 2009 2009
dbSNP: rs132985
rs132985 		0.827 0.120 22 38167464 intron variant C/T snv 0.51
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs132985
rs132985 		0.827 0.120 22 38167464 intron variant C/T snv 0.51
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs132985
rs132985 		0.827 0.120 22 38167464 intron variant C/T snv 0.51
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs133027
rs133027 		22 38179492 intron variant T/- delins 0.46
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018