Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) ×
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: rs113994152
rs113994152 		0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 4 2008 2014
dbSNP: rs1012275384
rs1012275384 		0.925 0.080 17 75522019 frameshift variant C/- delins 1.4E-05 7.0E-06
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994151
rs113994151 		0.925 0.080 17 75517064 missense variant T/C snv 7.0E-06
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994153
rs113994153 		0.925 0.080 17 75521817 stop gained C/T snv
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994154
rs113994154 		0.925 0.080 17 75522108 stop gained C/T snv
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886037629
rs886037629 		1.000 0.080 17 75522251 frameshift variant AGAGGAGCCAGCGC/- delins
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0