rs1057518966, MUSK

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.
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
Stridor
CUI: C0038450
Disease: Stridor
7 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0