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rs150370918

From SNPedia

Orientationplus
Stabilizedplus
Make rs150370918(C;C)
Make rs150370918(C;T)
Make rs150370918(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position219420551
GeneDES
is asnp
is mentioned by
dbSNPrs150370918
dbSNP (old)rs150370918
ClinGenrs150370918
ebirs150370918
HLIrs150370918
Exacrs150370918
Gnomadrs150370918
Varsomers150370918
Maprs150370918
PheGenIrs150370918
Biobankrs150370918
1000 genomesrs150370918
hgdprs150370918
ensemblrs150370918
gopubmedrs150370918
geneviewrs150370918
scholarrs150370918
googlers150370918
pharmgkbrs150370918
gwascentralrs150370918
openSNPrs150370918
23andMers150370918
23andMe allrs150370918
SNP Nexus

SNPshotrs150370918
SNPdbers150370918
MSV3drs150370918
GWAS Ctlgrs150370918
Max Magnitude
ClinVar
Risk rs150370918(T;T)
Alt rs150370918(T;T)
Reference rs150370918(C;C)
Significance Other
Disease not specified Muscular dystrophy Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy Scapuloperoneal weakness Dilated Cardiomyopathy
Variation info
Gene DES
CLNDBN not specified Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Cardiovascular phenotype Myofibrillar Myopathy, Dominant Scapuloperoneal weakness Dilated Cardiomyopathy, Dominant
Reversed 0
HGVS NC_000002.11:g.220285273C>T
CLNSRC
CLNACC RCV000037253.7, RCV000204254.3, RCV000242387.1, RCV000295994.1, RCV000345483.1, RCV000350858.1, RCV000381468.1,