rs1555216163, MYF5

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.
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
5 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0
External Ophthalmoplegia
CUI: C0162292
Disease: External Ophthalmoplegia
6 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0
OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
2 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.160 12 80717084 frameshift variant AGTTCTCACC/- delins 0.700 0