RYR1, ryanodine receptor 1, 6261

N. diseases: 320; N. variants: 248
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE ×
Source: ALL
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: rs118192164
rs118192164 		0.925 0.080 19 38525455 missense variant C/T snv
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs139161723
rs139161723 		1.000 19 38440830 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1568537774
rs1568537774 		1.000 19 38525371 frameshift variant -/G delins
CUI: C4016368
Disease: CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE 		0.700 0