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: rs1554380093
rs1554380093
AP4M1
7 100105098 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2009 2015
dbSNP: rs117460458
rs117460458
TAF6 ; AP4M1
7 100108776 3 prime UTR variant C/G snv 1.1E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs2293479
rs2293479
AP4M1
1.000 0.080 7 100106335 intron variant T/C;G snv 0.29; 4.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 1.000 1 2018 2018
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C1314691
Disease: Age at menarche
Age at menarche 		0.700 1.000 1 2019 2019
dbSNP: rs146262009
rs146262009
AP4M1
1.000 0.080 7 100106278 stop gained C/G;T snv 4.0E-06; 4.4E-05
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs1554377262
rs1554377262
MCM7 ; AP4M1
1.000 0.080 7 100101774 splice donor variant T/G snv
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs369459721
rs369459721
AP4M1
1.000 0.080 7 100105526 stop gained C/G;T snv 4.0E-05
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs760907496
rs760907496
TAF6 ; AP4M1
1.000 0.080 7 100106745 missense variant T/C snv 4.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs776788025
rs776788025
AP4M1
1.000 0.080 7 100105450 frameshift variant TG/- delins 1.2E-05 7.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs780030221
rs780030221
AP4M1
1.000 0.080 7 100105314 stop gained C/T snv 8.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs797045249
rs797045249
MCM7 ; AP4M1
1.000 0.080 7 100101745 frameshift variant A/- delins 7.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 1.000 2 2012 2014
dbSNP: rs999885
rs999885
MCM7 ; AP4M1
0.925 0.120 7 100103553 intron variant G/A snv 0.56 0.46
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 1.000 1 2012 2012