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rs1800279

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1800279(A;G)
Make rs1800279(G;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position31478281
GeneDMD
is asnp
is mentioned by
dbSNPrs1800279
ebirs1800279
HLIrs1800279
Exacrs1800279
Varsomers1800279
Maprs1800279
PheGenIrs1800279
hapmaprs1800279
1000 genomesrs1800279
hgdprs1800279
ensemblrs1800279
gopubmedrs1800279
geneviewrs1800279
scholarrs1800279
googlers1800279
pharmgkbrs1800279
gwascentralrs1800279
openSNPrs1800279
23andMers1800279
23andMe allrs1800279
SNP Nexus

SNPshotrs1800279
SNPdbers1800279
MSV3drs1800279
GWAS Ctlgrs1800279
GMAF0.01209
Max Magnitude0
OMIM300377
Desc
Variant0063
Relatedalso
ClinVar
Risk rs1800279(G;G)
Alt rs1800279(G;G)
Reference rs1800279(A;A)
Significance Pathogenic
Disease Becker muscular dystrophy not specified
Variation info
Gene DMD
CLNDBN Becker muscular dystrophy not specified
Reversed 1
HGVS NC_000023.10:g.31496398T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012020.17, RCV000080812.6,


GET Evidence
DMD-H2921R
aa_change His2921Arg
aa_change_short H2921R
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.0206645
summary Thought to be a rare nonpathogenic polymorphism.