rs80338937, SH3TC2

N. diseases: 4
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.
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
27 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.925 0.080 5 149006955 stop gained G/A snv 0.700 0