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rs41272699

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41272699(C;T)
Make rs41272699(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position219420154
GeneDES
is asnp
is mentioned by
dbSNPrs41272699
dbSNP (old)rs41272699
ClinGenrs41272699
ebirs41272699
HLIrs41272699
Exacrs41272699
Gnomadrs41272699
Varsomers41272699
Maprs41272699
PheGenIrs41272699
Biobankrs41272699
1000 genomesrs41272699
hgdprs41272699
ensemblrs41272699
gopubmedrs41272699
geneviewrs41272699
scholarrs41272699
googlers41272699
pharmgkbrs41272699
gwascentralrs41272699
openSNPrs41272699
23andMers41272699
23andMe allrs41272699
SNP Nexus

SNPshotrs41272699
SNPdbers41272699
MSV3drs41272699
GWAS Ctlgrs41272699
Max Magnitude0
ClinVar
Risk rs41272699(T;T)
Alt rs41272699(T;T)
Reference Rs41272699(C;C)
Significance Pathogenic
Disease not specified not provided Congenital diaphragmatic hernia Muscular dystrophy Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy Dilated Cardiomyopathy Scapuloperoneal weakness
Variation info
Gene DES
CLNDBN not specified not provided Congenital diaphragmatic hernia Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 Myofibrillar myopathy Cardiovascular phenotype Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Scapuloperoneal weakness
Reversed 0
HGVS NC_000002.11:g.220284876C>T
CLNSRC HGMD UniProtKB (protein)
CLNACC RCV000037245.8, RCV000056805.1, RCV000203295.1, RCV000233557.2, RCV000239721.1, RCV000250294.1, RCV000263666.1, RCV000313133.1, RCV000318781.1, RCV000367823.1,