rs140385286, SPG11

N. diseases: 3
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 11, autosomal recessive
CUI: C1858479
Disease: Spastic paraplegia 11, autosomal recessive
134 0.882 0.120 15 44651862 stop gained C/T snv 4.0E-05 4.9E-05 0.700 1.000 1 2013 2013
AMYOTROPHIC LATERAL SCLEROSIS 5
CUI: C1865864
Disease: AMYOTROPHIC LATERAL SCLEROSIS 5
8 0.882 0.120 15 44651862 stop gained C/T snv 4.0E-05 4.9E-05 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
8 0.882 0.120 15 44651862 stop gained C/T snv 4.0E-05 4.9E-05 0.700 0