AP4B1-AS1, AP4B1 antisense RNA 1, 100287722

N. diseases: 13; N. variants: 38
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE ×
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: rs587779388
rs587779388 		1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2011 2015
dbSNP: rs1553257236
rs1553257236 		1.000 1 113896265 frameshift variant AATACAACAAACGT/- delins
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs374894037
rs374894037 		1.000 1 113898739 stop gained G/A snv 4.0E-06 4.2E-05
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs776976178
rs776976178 		1.000 1 113897926 stop gained G/A;T snv 5.6E-05; 8.0E-06
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0