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

rs748323823

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6.5 Myofibrillar Myopathy
(G;G) 0 common in clinvar
Make rs748323823(A;A)
Make rs748323823(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219425746
GeneDES
is asnp
is mentioned by
dbSNPrs748323823
dbSNP (classic)rs748323823
ClinGenrs748323823
ebirs748323823
HLIrs748323823
Exacrs748323823
Gnomadrs748323823
Varsomers748323823
LitVarrs748323823
Maprs748323823
PheGenIrs748323823
Biobankrs748323823
1000 genomesrs748323823
hgdprs748323823
ensemblrs748323823
geneviewrs748323823
scholarrs748323823
googlers748323823
pharmgkbrs748323823
gwascentralrs748323823
openSNPrs748323823
23andMers748323823
SNPshotrs748323823
SNPdbers748323823
MSV3drs748323823
GWAS Ctlgrs748323823
Max Magnitude6.5
ClinVar
Risk rs748323823(A;A) rs748323823(C;C)
Alt rs748323823(A;A) rs748323823(C;C)
Reference Rs748323823(G;G)
Significance Pathogenic
Disease not provided not specified Myofibrillar myopathy 1
Variation info
Gene DES LOC101928568
CLNDBN not provided not specified Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220290468G>A; NC_000002.11:g.220290468G>C
CLNSRC
CLNACC RCV000183362.3, RCV000223904.1, RCV000458158.1, RCV000183363.1,