CRPPA, CDP-L-ribitol pyrophosphorylase A, 729920

N. diseases: 134; N. variants: 26
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: rs369219851
rs369219851 		1.000 7 16406149 missense variant G/A snv
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.700 1.000 3 2013 2017
dbSNP: rs387907160
rs387907160 		1.000 7 16376129 missense variant G/C;T snv 4.1E-06
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.800 1.000 5 2012 2013
dbSNP: rs387907162
rs387907162 		1.000 7 16406231 missense variant C/G snv
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.800 1.000 5 2012 2013
dbSNP: rs397514547
rs397514547 		1.000 7 16406129 missense variant C/G;T snv 4.0E-06
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.800 1.000 5 2012 2013
dbSNP: rs397515408
rs397515408 		1.000 7 16376138 missense variant A/C snv 4.1E-06
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.800 1.000 5 2012 2013
dbSNP: rs397515409
rs397515409 		1.000 7 16308599 missense variant G/A;C snv 4.1E-06; 3.7E-05
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 1.000 5 2012 2013
dbSNP: rs566179705
rs566179705 		1.000 7 16376162 missense variant C/T snv 8.1E-06 2.8E-05
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 1.000 5 2012 2013
dbSNP: rs752817129
rs752817129 		1.000 7 16406218 missense variant C/T snv 2.0E-05 2.8E-05
CUI: C3553330
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 		0.700 1.000 5 2012 2013