Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1013940
rs1013940
0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
Nervous System Diseases 0.010 1.000 1 2019 2019