rs375454176, TDRKH

N. diseases: 2
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.
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 1.000 0.040 1 151776497 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0
Motor axonal neuropathy
CUI: C2749625
Disease: Motor axonal neuropathy
4 1.000 0.040 1 151776497 missense variant C/T snv 1.2E-05 7.0E-06 0.700 0