rs80359890, 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.
MONONEUROPATHY OF THE MEDIAN NERVE, MILD
CUI: C3150596
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
2 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.800 0
Charcot-Marie-Tooth disease type 4
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
77 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
27 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.700 0
Inherited neuropathies
CUI: C0598589
Disease: Inherited neuropathies
4 0.851 0.080 5 149042718 missense variant A/G snv 1.6E-03; 4.0E-06 2.0E-03 0.010 1.000 1 2016 2016