Have questions? Visit https://www.reddit.com/r/SNPedia

rs193922746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922746(A;G)
Make rs193922746(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position38440796
GeneRYR1
is asnp
is mentioned by
dbSNPrs193922746
ebirs193922746
HLIrs193922746
Exacrs193922746
Varsomers193922746
Maprs193922746
PheGenIrs193922746
hapmaprs193922746
1000 genomesrs193922746
hgdprs193922746
ensemblrs193922746
gopubmedrs193922746
geneviewrs193922746
scholarrs193922746
googlers193922746
pharmgkbrs193922746
gwascentralrs193922746
openSNPrs193922746
23andMers193922746
23andMe allrs193922746
SNP Nexus

SNPshotrs193922746
SNPdbers193922746
MSV3drs193922746
GWAS Ctlgrs193922746
Max Magnitude0
ClinVar
Risk rs193922746(G;G)
Alt rs193922746(G;G)
Reference rs193922746(A;A)
Significance Pathogenic
Disease King Denborough syndrome not provided
Variation info
Gene RYR1
CLNDBN King Denborough syndrome not provided
Reversed 0
HGVS NC_000019.9:g.38931436A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049252.23, RCV000119774.1,