FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
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: rs121908287
rs121908287 		0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 8 2007 2018
dbSNP: rs587777714
rs587777714 		1.000 0.080 6 109743137 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 3 2007 2011
dbSNP: rs121908290
rs121908290 		1.000 0.080 6 109715168 missense variant G/T snv
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs397509395
rs397509395 		1.000 0.160 6 109727130 missense variant G/A snv
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397514707
rs397514707 		1.000 0.160 6 109735176 missense variant T/C snv 7.0E-06
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs587777716
rs587777716 		1.000 6 109791543 missense variant A/T snv
CUI: C4013648
Disease: POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 		0.800 1.000 1 2014 2014
dbSNP: rs377357931
rs377357931 		1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 1993 2015
dbSNP: rs747768373
rs747768373 		6 109792665 splice donor variant G/A snv 8.0E-06 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 7 1993 2015
dbSNP: rs121908287
rs121908287 		0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 5 2007 2014
dbSNP: rs587777713
rs587777713 		1.000 0.080 6 109691485 missense variant T/C snv 2.1E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2007 2011
dbSNP: rs1554309093
rs1554309093 		1.000 0.080 6 109792591 stop gained C/T snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs745790694
rs745790694 		1.000 0.080 6 109796772 stop gained C/T snv 2.4E-05 1.4E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2011 2013
dbSNP: rs764717219
rs764717219 		0.882 0.120 6 109738435 frameshift variant G/- delins 3.2E-05 1.4E-05
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs121908287
rs121908287 		0.882 0.120 6 109715133 missense variant T/C snv 9.8E-04 1.1E-03
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12192279
rs12192279 		6 109734110 intron variant G/A snv 9.0E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs12206574
rs12206574 		6 109746570 intron variant G/A snv 9.0E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13207150
rs13207150 		6 109771697 intron variant C/A;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs143130997
rs143130997 		6 109780207 intron variant G/A snv 5.9E-03
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2017 2017
dbSNP: rs143130997
rs143130997 		6 109780207 intron variant G/A snv 5.9E-03
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2017 2017
dbSNP: rs150301327
rs150301327 		1.000 0.080 6 109785020 missense variant A/G snv 8.8E-05 7.7E-05
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1554300952
rs1554300952 		1.000 0.080 6 109735148 splice acceptor variant A/G snv
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs377357931
rs377357931 		1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4473902
rs4473902 		6 109799064 intron variant A/C snv 8.9E-02
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: rs4473902
rs4473902 		6 109799064 intron variant A/C snv 8.9E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs4947015
rs4947015 		6 109731312 intron variant A/G snv 9.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019