rs763944786, RYR1

N. diseases: 5
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.
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
Pelvic girdle weakness
CUI: C0427064
Disease: Pelvic girdle weakness
2 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
Progressive distal muscle weakness
CUI: C1836609
Disease: Progressive distal muscle weakness
4 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0