rs371334506, SPG11

N. diseases: 5
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 44565954 missense variant A/C;G snv 4.0E-06 0.700 1.000 2 2016 2017
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
CUI: C4225253
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
8 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
Leukodystrophy
CUI: C0023520
Disease: Leukodystrophy
27 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
121 0.882 0.120 15 44565954 missense variant A/C;G snv 4.0E-06 0.700 0