GMPPB, GDP-mannose pyrophosphorylase B, 29925

N. diseases: 158; N. variants: 23
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: rs142336618
rs142336618 		0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 7 2013 2017
dbSNP: rs202160208
rs202160208 		0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.800 1.000 6 2013 2017
dbSNP: rs202160208
rs202160208 		0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 6 2013 2017
dbSNP: rs761714818
rs761714818 		0.882 3 49722343 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 6 2013 2017
dbSNP: rs142908436
rs142908436 		0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 5 2013 2017
dbSNP: rs397509424
rs397509424 		1.000 3 49723663 missense variant G/A snv
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 4 2013 2017
dbSNP: rs875989850
rs875989850 		1.000 3 49722239 missense variant C/T snv 1.4E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 4 2013 2017
dbSNP: rs199922550
rs199922550 		0.882 3 49721847 missense variant C/T snv 6.0E-05 4.9E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 3 2013 2016
dbSNP: rs397509422
rs397509422 		0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.800 1.000 3 2013 2015
dbSNP: rs397509425
rs397509425 		0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.800 1.000 1 2013 2013
dbSNP: rs397509426
rs397509426 		0.882 0.080 3 49723632 missense variant G/A snv 8.0E-05 7.0E-06
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.800 1.000 1 2013 2013
dbSNP: rs771861177
rs771861177 		0.882 3 49721765 missense variant C/T snv 3.7E-05 1.4E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.800 1.000 1 2017 2017
dbSNP: rs142336618
rs142336618 		0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 2013 2017
dbSNP: rs142908436
rs142908436 		0.851 0.120 3 49722057 missense variant G/A;T snv 1.0E-04; 1.2E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2015 2017
dbSNP: rs202160208
rs202160208 		0.827 0.160 3 49722056 missense variant C/T snv 2.9E-04 1.8E-04
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.700 1.000 6 2013 2017
dbSNP: rs142336618
rs142336618 		0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.700 1.000 5 2013 2015
dbSNP: rs142336618
rs142336618 		0.827 0.120 3 49723648 missense variant C/G snv 4.5E-06; 7.0E-04 5.3E-04
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.700 1.000 5 2013 2015
dbSNP: rs397509425
rs397509425 		0.882 3 49722604 missense variant G/A snv 3.6E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2009 2015
dbSNP: rs559784211
rs559784211 		1.000 3 49721882 missense variant A/G snv 1.6E-05 4.2E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 1.000 4 2013 2017
dbSNP: rs781114909
rs781114909 		1.000 3 49721869 missense variant G/A;T snv 1.6E-05; 4.0E-06
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 1.000 4 2013 2017
dbSNP: rs199922550
rs199922550 		0.882 3 49721847 missense variant C/T snv 6.0E-05 4.9E-05
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.700 1.000 3 2013 2016
dbSNP: rs199922550
rs199922550 		0.882 3 49721847 missense variant C/T snv 6.0E-05 4.9E-05
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.700 1.000 3 2013 2016
dbSNP: rs397509422
rs397509422 		0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C3809221
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 		0.700 1.000 3 2013 2015
dbSNP: rs397509422
rs397509422 		0.851 0.080 3 49721835 missense variant C/G;T snv 4.0E-06; 7.6E-05
CUI: C3714932
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 		0.700 1.000 3 2013 2015
dbSNP: rs761714818
rs761714818 		0.882 3 49722343 missense variant A/G snv 6.4E-05 4.2E-05
CUI: C3809216
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 		0.700 1.000 3 2014 2015