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rs1800273

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800273(C;T)
Make rs1800273(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position31968490
GeneDMD
is asnp
is mentioned by
dbSNPrs1800273
dbSNP (old)rs1800273
ClinGenrs1800273
ebirs1800273
HLIrs1800273
Exacrs1800273
Gnomadrs1800273
Varsomers1800273
Maprs1800273
PheGenIrs1800273
Biobankrs1800273
1000 genomesrs1800273
hgdprs1800273
ensemblrs1800273
gopubmedrs1800273
geneviewrs1800273
scholarrs1800273
googlers1800273
pharmgkbrs1800273
gwascentralrs1800273
openSNPrs1800273
23andMers1800273
23andMe allrs1800273
SNP Nexus

SNPshotrs1800273
SNPdbers1800273
MSV3drs1800273
GWAS Ctlgrs1800273
Max Magnitude0

[PMID 25227141OA-icon.png] The dystrophin gene and cognitive function in the general population


ClinVar
Risk rs1800273(T;T)
Alt rs1800273(T;T)
Reference Rs1800273(C;C)
Significance Other
Disease not specified Duchenne muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 3B
Variation info
Gene DMD
CLNDBN not specified Duchenne muscular dystrophy Cardiovascular phenotype Dilated cardiomyopathy 3B
Reversed 1
HGVS NC_000023.10:g.31986607G>A
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000080734.7, RCV000233842.2, RCV000243807.1, RCV000351438.1,



GET Evidence
DMD-R2155W
aa_change Arg2155Trp
aa_change_short R2155W
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0269529
summary Probably benign.