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rs1800278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0.5
Make rs1800278(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position31478309
GeneDMD
is asnp
is mentioned by
dbSNPrs1800278
ebirs1800278
HLIrs1800278
Exacrs1800278
Varsomers1800278
Maprs1800278
PheGenIrs1800278
hapmaprs1800278
1000 genomesrs1800278
hgdprs1800278
ensemblrs1800278
gopubmedrs1800278
geneviewrs1800278
scholarrs1800278
googlers1800278
pharmgkbrs1800278
gwascentralrs1800278
openSNPrs1800278
23andMers1800278
23andMe allrs1800278
SNP Nexus

SNPshotrs1800278
SNPdbers1800278
MSV3drs1800278
GWAS Ctlgrs1800278
GMAF0.03869
Max Magnitude0.5
? (A;A) (A;G) (G;G) 28
OMIM300377
DescDUCHENNE MUSCULAR DYSTROPHY
Variant0062
Relatedalso
Neighborrs1800280
Distance76

omim notes that [PMID 7881286] links this snp to Duchenne muscular dystrophy, but hapmap frequency makes that seem very unlikely.


ClinVar
Risk rs1800278(G;G)
Alt rs1800278(G;G)
Reference rs1800278(A;A)
Significance Pathogenic
Disease Duchenne muscular dystrophy not specified
Variation info
Gene DMD
CLNDBN Duchenne muscular dystrophy not specified
Reversed 1
HGVS NC_000023.10:g.31496426T>C
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012019.17, RCV000080811.6,



GET Evidence
DMD-N2912D
aa_change Asn2912Asp
aa_change_short N2912D
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0310538
summary