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

rs727504448

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504448(-;-)
Make rs727504448(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219420116
GeneDES
is asnp
is mentioned by
dbSNPrs727504448
ebirs727504448
HLIrs727504448
Exacrs727504448
Varsomers727504448
Maprs727504448
PheGenIrs727504448
hapmaprs727504448
1000 genomesrs727504448
hgdprs727504448
ensemblrs727504448
gopubmedrs727504448
geneviewrs727504448
scholarrs727504448
googlers727504448
pharmgkbrs727504448
gwascentralrs727504448
openSNPrs727504448
23andMers727504448
23andMe allrs727504448
SNP Nexus

SNPshotrs727504448
SNPdbers727504448
MSV3drs727504448
GWAS Ctlgrs727504448
Max Magnitude0
ClinVar
Risk rs727504448(;)
Alt rs727504448(;)
Reference rs727504448(G;G)
Significance Probable-Pathogenic
Disease Myofibrillar myopathy 1
Variation info
Gene DES
CLNDBN Myofibrillar myopathy 1
Reversed 0
HGVS NC_000002.11:g.220284838delG
CLNSRC
CLNACC RCV000155417.1,