rs864622194, RAB9B;PLP1

N. diseases: 3
Source: CURATED ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 0.080 X 103776997 start lost T/C;G snv 0.700 1.000 12 1989 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 X 103776997 start lost T/C;G snv 0.700 1.000 12 1989 2016
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
CUI: C1839264
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
13 0.925 0.080 X 103776997 start lost T/C;G snv 0.700 0