rs771785420, GAN

N. diseases: 8
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.
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Distal sensory impairment
CUI: C1847584
Disease: Distal sensory impairment
5 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Distal upper limb amyotrophy
CUI: C4021581
Disease: Distal upper limb amyotrophy
1 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Gait, Drop Foot
CUI: C0427149
Disease: Gait, Drop Foot
5 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
GIANT AXONAL NEUROPATHY 1
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
20 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Motor axonal neuropathy
CUI: C2749625
Disease: Motor axonal neuropathy
4 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Quadriparesis
CUI: C0270790
Disease: Quadriparesis
5 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0