RELN, reelin, 5649

N. diseases: 178; N. variants: 52
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE ×
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: rs587780435
rs587780435 		1.000 0.080 7 103565295 stop gained G/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780436
rs587780436 		1.000 0.080 7 103565279 frameshift variant -/GGAGAGTGGAAGGT delins
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587780437
rs587780437 		1.000 0.080 7 103523390 splice donor variant C/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045912
rs797045912 		1.000 0.080 7 103917082 frameshift variant -/A delins 1.6E-05
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs797045915
rs797045915 		1.000 0.080 7 103557992 stop gained G/A snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs869320767
rs869320767 		1.000 0.080 7 103553659 splice donor variant C/T snv
CUI: C0796089
Disease: LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0