Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1248355799
rs1248355799
RYR1
1.000 19 38485770 frameshift variant ACTGCGCG/- del 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1973 2013
dbSNP: rs756138074
rs756138074
RYR1
1.000 19 38467793 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 12 1973 2013