PFKM, phosphofructokinase, muscle, 5213

N. diseases: 58; N. variants: 14
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: rs121918193
rs121918193 		1.000 0.160 12 48130393 missense variant G/A;C;T snv 2.0E-05
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1994 2013
dbSNP: rs121918194
rs121918194 		1.000 0.160 12 48142041 missense variant A/C snv 1.6E-05
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1994 2013
dbSNP: rs121918196
rs121918196 		1.000 0.160 12 48145096 missense variant G/T snv
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1994 2013
dbSNP: rs202143236
rs202143236 		1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 1993 1995
dbSNP: rs767095759
rs767095759 		1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1994 1997
dbSNP: rs746348793
rs746348793 		1.000 0.160 12 48139913 splice donor variant G/A snv 8.0E-06
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1994 1995
dbSNP: rs767095759
rs767095759 		1.000 0.160 12 48145039 frameshift variant C/- delins 9.5E-05 4.9E-05
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1994 1996
dbSNP: rs12306290
rs12306290 		12 48119303 5 prime UTR variant T/G snv 0.30
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs202143236
rs202143236 		1.000 0.160 12 48131394 splice donor variant G/A snv 1.3E-04; 4.0E-06 6.3E-05
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		Musculoskeletal Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2408955
rs2408955 		12 48105348 5 prime UTR variant G/C;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4760682
rs4760682 		12 48118502 missense variant C/A snv 0.85 0.87
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4760682
rs4760682 		12 48118502 missense variant C/A snv 0.85 0.87
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs4760682
rs4760682 		12 48118502 missense variant C/A snv 0.85 0.87
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1169383137
rs1169383137 		1.000 0.160 12 48135373 missense variant A/G snv 4.0E-06
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918195
rs121918195 		1.000 0.160 12 48132913 stop gained C/T snv 4.0E-06
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs767265360
rs767265360 		1.000 0.160 12 48134264 missense variant G/A snv 4.0E-06
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1335780263
rs1335780263 		1.000 0.160 12 48145569 missense variant G/A snv 7.0E-06
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs749015654
rs749015654 		12 48132914 missense variant G/A snv 8.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009