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rs59962885

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs59962885(C;C)
Make rs59962885(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position219420939
GeneDES
is asnp
is mentioned by
dbSNPrs59962885
dbSNP (old)rs59962885
ClinGenrs59962885
ebirs59962885
HLIrs59962885
Exacrs59962885
Gnomadrs59962885
Varsomers59962885
Maprs59962885
PheGenIrs59962885
Biobankrs59962885
1000 genomesrs59962885
hgdprs59962885
ensemblrs59962885
gopubmedrs59962885
geneviewrs59962885
scholarrs59962885
googlers59962885
pharmgkbrs59962885
gwascentralrs59962885
openSNPrs59962885
23andMers59962885
23andMe allrs59962885
SNP Nexus

SNPshotrs59962885
SNPdbers59962885
MSV3drs59962885
GWAS Ctlgrs59962885
Max Magnitude0
OMIM125660
Desc
Variant0001
Relatedalso


ClinVar
Risk rs59962885(A;A) rs59962885(C;C)
Alt rs59962885(A;A) rs59962885(C;C)
Reference Rs59962885(G;G)
Significance Pathogenic
Disease not specified Myofibrillar myopathy 1 not provided
Variation info
Gene DES
CLNDBN not specified Myofibrillar myopathy 1 not provided
Reversed 0
HGVS NC_000002.11:g.220285661G>A; NC_000002.11:g.220285661G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000423698.1, RCV000018314.23, RCV000056762.1,