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rs200473206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200473206(A;A)
Make rs200473206(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position7555825
GeneDSP
is asnp
is mentioned by
dbSNPrs200473206
dbSNP (classic)rs200473206
ClinGenrs200473206
ebirs200473206
HLIrs200473206
Exacrs200473206
Gnomadrs200473206
Varsomers200473206
LitVarrs200473206
Maprs200473206
PheGenIrs200473206
Biobankrs200473206
1000 genomesrs200473206
hgdprs200473206
ensemblrs200473206
geneviewrs200473206
scholarrs200473206
googlers200473206
pharmgkbrs200473206
gwascentralrs200473206
openSNPrs200473206
23andMers200473206
SNPshotrs200473206
SNPdbers200473206
MSV3drs200473206
GWAS Ctlgrs200473206
Max Magnitude0
ClinVar
Risk rs200473206(A;A)
Alt rs200473206(A;A)
Reference Rs200473206(G;G)
Significance Probable-Pathogenic
Disease not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy
Variation info
Gene DSP
CLNDBN not specified Long QT syndrome Primary dilated cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy, type 8 Cardiomyopathy dilated with woolly hair and keratoderma Arrhythmogenic right ventricular cardiomyopathy
Reversed 0
HGVS NC_000006.11:g.7556058G>A
CLNSRC
CLNACC RCV000150557.4, RCV000157211.1, RCV000157212.1, RCV000232421.2, RCV000239152.1,