rs121908513, SPAST

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Spastic paraplegia 4, autosomal dominant
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
101 0.807 0.280 2 32116145 missense variant T/A snv 0.800 1.000 20 1999 2014
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
59 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
Hereditary Autosomal Dominant Spastic Paraplegia
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
7 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.807 0.280 2 32116145 missense variant T/A snv 0.010 1.000 1 2018 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.807 0.280 2 32116145 missense variant T/A snv 0.010 1.000 1 2018 2018
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.807 0.280 2 32116145 missense variant T/A snv 0.010 1.000 1 2018 2018