Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397515396
rs397515396
CRPPA ; CRPPA-AS1
0.925 7 16216198 splice acceptor variant C/A;T 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 2 2012 2013
dbSNP: rs397515396
rs397515396
CRPPA ; CRPPA-AS1
0.925 7 16216198 splice acceptor variant C/A;T snv
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.700 1.000 2 2012 2013
dbSNP: rs1388044873
rs1388044873
CRPPA ; CRPPA-AS1
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
dbSNP: rs587777798
rs587777798
CRPPA ; CRPPA-AS1
0.925 7 16258393 inframe insertion ACA/-;ACAACA delins 4.2E-05
CUI: C4015095
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 		0.700 0
dbSNP: rs587777798
rs587777798
CRPPA ; CRPPA-AS1
0.925 7 16258393 inframe insertion ACA/-;ACAACA delins 4.2E-05
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.700 0