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: rs767978961
rs767978961 		0.925 7 16406338 splice acceptor 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 		0.700 1.000 1 2012 2012
dbSNP: rs767978961
rs767978961 		0.925 7 16406338 splice acceptor variant C/G snv
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.700 1.000 1 2012 2012
dbSNP: rs1289931198
rs1289931198 		1.000 7 16376099 missense variant T/C snv 1.4E-05
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: 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: rs587777797
rs587777797 		1.000 7 16421162 missense variant C/A;G snv
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.800 1.000 3 2013 2017
dbSNP: rs773325665
rs773325665 		0.925 7 16301419 splice donor variant A/G snv 1.6E-05 4.9E-05
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.700 1.000 1 2013 2013
dbSNP: rs773325665
rs773325665 		0.925 7 16301419 splice donor variant A/G snv 1.6E-05 4.9E-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 1 2013 2013
dbSNP: rs1388044873
rs1388044873 		7 16249276 intron variant G/A;C snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018