rs113993956, MYH14

N. diseases: 3
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.
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
CUI: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
1 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.800 1.000 2 2011 2015
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 1.000 19 50268255 missense variant G/A;T snv 6.2E-04 0.010 1.000 1 2019 2019