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rs57496341

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs57496341(G;G)
Make rs57496341(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position219420943
GeneDES
is asnp
is mentioned by
dbSNPrs57496341
dbSNP (classic)rs57496341
ClinGenrs57496341
ebirs57496341
HLIrs57496341
Exacrs57496341
Gnomadrs57496341
Varsomers57496341
LitVarrs57496341
Maprs57496341
PheGenIrs57496341
Biobankrs57496341
1000 genomesrs57496341
hgdprs57496341
ensemblrs57496341
geneviewrs57496341
scholarrs57496341
googlers57496341
pharmgkbrs57496341
gwascentralrs57496341
openSNPrs57496341
23andMers57496341
SNPshotrs57496341
SNPdbers57496341
MSV3drs57496341
GWAS Ctlgrs57496341
Max Magnitude0
ClinVar
Risk rs57496341(C;C) rs57496341(G;G)
Alt rs57496341(C;C) rs57496341(G;G)
Reference Rs57496341(T;T)
Significance Probable-Pathogenic
Disease Muscular dystrophy Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN Muscular dystrophy, limb-girdle, type 2r Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220285665T>C; NC_000002.11:g.220285665T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000227930.1, RCV000056763.1,