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: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 4 2013 2018
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 2 2013 2018
dbSNP: rs142209254
rs142209254
AP4B1 ; AP4B1-AS1
1 113896423 stop gained T/A;G snv 4.0E-06; 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2009 2016
dbSNP: rs149705131
rs149705131
AP4B1 ; AP4B1-AS1
1 113901236 missense variant C/T snv 1.6E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2009 2016
dbSNP: rs1553259463
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2009 2016
dbSNP: rs1553259463
rs1553259463
AP4B1
1.000 1 113901815 stop gained GACAT/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2009 2016
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2009 2016
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
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: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 1.000 3 2011 2012
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 3 2011 2012
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C1854882
Disease: Absent speech
Absent speech 		0.700 1.000 3 2011 2012
dbSNP: rs17464525
rs17464525
AP4B1 ; AP4B1-AS1
1 113901277 synonymous variant G/A snv 0.17 0.16
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs7513707
rs7513707
AP4B1 ; DCLRE1B
1.000 0.080 1 113903258 intron variant G/A snv 0.15
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs1019204290
rs1019204290
AP4B1 ; DCLRE1B
1.000 1 113902633 splice region variant C/T snv
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 113897860 stop gained C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 113900063 missense variant A/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1553257236
rs1553257236
AP4B1 ; AP4B1-AS1
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
AP4B1 ; AP4B1-AS1
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: rs587783179
rs587783179
AP4B1 ; DCLRE1B
1.000 1 113902663 frameshift variant C/- delins 1.4E-05
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs776976178
rs776976178
AP4B1 ; AP4B1-AS1
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
dbSNP: rs797045244
rs797045244
AP4B1 ; DCLRE1B
1.000 1 113902664 frameshift variant CA/G delins
CUI: C3279738
Disease: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs11552449
rs11552449
AP4B1 ; DCLRE1B
0.925 0.080 1 113905767 missense variant C/G;T snv 0.22 0.15
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1217401
rs1217401
AP4B1 ; AP4B1-AS1
0.925 0.080 1 113896329 missense variant A/G snv 0.30 0.42
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 1.000 1 2013 2013
dbSNP: rs1217401
rs1217401
AP4B1 ; AP4B1-AS1
0.925 0.080 1 113896329 missense variant A/G snv 0.30 0.42
CUI: C0752304
Disease: Hypoxic-Ischemic Encephalopathy
Hypoxic-Ischemic Encephalopathy 		0.010 1.000 1 2013 2013