rs1057518780, GJB1

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 pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Decreased nerve conduction velocity
CUI: C1857640
Disease: Decreased nerve conduction velocity
5 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Hand muscle atrophy
CUI: C0239830
Disease: Hand muscle atrophy
2 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Peroneal muscle atrophy
CUI: C1389118
Disease: Peroneal muscle atrophy
2 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0
Sensory neuropathy
CUI: C0151313
Disease: Sensory neuropathy
15 0.882 0.200 X 71224209 missense variant T/G snv 0.700 0