RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Gross motor development delay ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518940
rs1057518940 		0.925 0.040 19 38499718 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs763944786
rs763944786 		0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0