rs1568507354, RYR1

N. diseases: 6
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.
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
110 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0
Plagiocephaly
CUI: C0265529
Disease: Plagiocephaly
12 0.827 0.200 19 38502879 splice acceptor variant G/A snv 0.700 0