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

rs150974575

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs150974575(C;T)
Make rs150974575(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219423817
GeneDES
is asnp
is mentioned by
dbSNPrs150974575
ebirs150974575
HLIrs150974575
Exacrs150974575
Varsomers150974575
Maprs150974575
PheGenIrs150974575
hapmaprs150974575
1000 genomesrs150974575
hgdprs150974575
ensemblrs150974575
gopubmedrs150974575
geneviewrs150974575
scholarrs150974575
googlers150974575
pharmgkbrs150974575
gwascentralrs150974575
openSNPrs150974575
23andMers150974575
23andMe allrs150974575
SNP Nexus

SNPshotrs150974575
SNPdbers150974575
MSV3drs150974575
GWAS Ctlgrs150974575
Max Magnitude0
ClinVar
Risk rs150974575(T;T)
Alt rs150974575(T;T)
Reference rs150974575(C;C)
Significance Probable-Pathogenic
Disease Myofibrillar myopathy
Variation info
Gene DES LOC101928568
CLNDBN Myofibrillar myopathy
Reversed 0
HGVS NC_000002.11:g.220288539C>T
CLNSRC
CLNACC RCV000154519.1,