rs1057518940, RYR1

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.
Congenital contracture
CUI: C0332878
Disease: Congenital contracture
3 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
Proximal amyotrophy
CUI: C1850794
Disease: Proximal amyotrophy
1 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.040 19 38499718 missense variant G/A snv 0.700 0