rs122459149, FHL1

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.
Emery-Dreifuss Muscular Dystrophy 6, X-Linked
CUI: C2749106
Disease: Emery-Dreifuss Muscular Dystrophy 6, X-Linked
2 0.925 0.120 X 136208578 missense variant T/C snv 0.700 0
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
CUI: C2678055
Disease: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)
11 0.925 0.120 X 136208578 missense variant T/C snv 0.700 0