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: rs367543072
rs367543072 		1.000 1 235470872 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.800 1.000 1 2013 2013
dbSNP: rs367543073
rs367543073 		1.000 1 235470857 missense variant A/C snv
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.800 1.000 1 2013 2013
dbSNP: rs367543076
rs367543076 		1.000 1 235458753 missense variant C/G;T snv 4.3E-06; 4.3E-06
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.800 1.000 1 2013 2013
dbSNP: rs746593718
rs746593718 		1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 6 1991 2016
dbSNP: rs746593718
rs746593718 		1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1991 2016
dbSNP: rs367543075
rs367543075 		1.000 1 235465651 frameshift variant -/AA delins 1.2E-05; 2.1E-04 1.3E-04
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 1.000 2 2013 2017
dbSNP: rs757347274
rs757347274 		0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 2 2013 2014
dbSNP: rs757347274
rs757347274 		0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs367543074
rs367543074 		1.000 1 235465675 missense variant C/T snv 1.2E-05
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 1.000 1 2013 2013
dbSNP: rs757347274
rs757347274 		0.925 1 235470849 splice donor variant C/T snv 4.8E-05 1.4E-05
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 1.000 1 2013 2013
dbSNP: rs9786986
rs9786986 		1 235493325 intron variant G/T snv 0.18
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs1282726649
rs1282726649 		1.000 1 235484429 stop gained G/A snv 8.0E-06
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs142756842
rs142756842 		1.000 1 235494772 missense variant C/T snv 2.6E-04 1.7E-04
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs1553342786
rs1553342786 		1.000 1 235454244 frameshift variant G/- delins
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs1553347936
rs1553347936 		1.000 1 235470962 splice acceptor variant T/C snv
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs367543069
rs367543069 		1.000 1 235504179 frameshift variant -/AGCCGCAGCCAGAGGTGCAGCGC delins
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs367543070
rs367543070 		1.000 1 235489220 frameshift variant CA/- delins
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs367543077
rs367543077 		0.882 0.120 1 235450286 stop gained G/A snv
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs780433836
rs780433836 		1.000 1 235465715 splice acceptor variant C/A;T snv 2.4E-05
CUI: C3554638
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 		0.700 0
dbSNP: rs367543077
rs367543077 		0.882 0.120 1 235450286 stop gained G/A snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.020 1.000 2 2015 2017
dbSNP: rs367543077
rs367543077 		0.882 0.120 1 235450286 stop gained G/A snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015