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rs121912998

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 2 Significance unclear: formerly associated with cardiomyopathy
(G;G) 0 common in clinvar


Make rs121912998(A;A)
ReferenceGRCh38 38.1/141
Chromosome6
Position7542003
GeneDSP, LOC101928076
is asnp
is mentioned by
dbSNPrs121912998
dbSNP (old)rs121912998
ClinGenrs121912998
ebirs121912998
HLIrs121912998
Exacrs121912998
Gnomadrs121912998
Varsomers121912998
Maprs121912998
PheGenIrs121912998
Biobankrs121912998
1000 genomesrs121912998
hgdprs121912998
ensemblrs121912998
gopubmedrs121912998
geneviewrs121912998
scholarrs121912998
googlers121912998
pharmgkbrs121912998
gwascentralrs121912998
openSNPrs121912998
23andMers121912998
23andMe allrs121912998
SNP Nexus

SNPshotrs121912998
SNPdbers121912998
MSV3drs121912998
GWAS Ctlgrs121912998
GMAF0.001837
Max Magnitude2
OMIM125647
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912998(A;A)
Alt rs121912998(A;A)
Reference Rs121912998(G;G)
Significance Other
Disease Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy Right ventricular cardiomyopathy
Variation info
Gene LOC101928076 DSP
CLNDBN Arrhythmogenic right ventricular cardiomyopathy, type 8 Arrhythmogenic right ventricular cardiomyopathy not specified Cardiomyopathy dilated with woolly hair and keratoderma Cardiomyopathy Cardiomyopathy, ARVC Right ventricular cardiomyopathy
Reversed 0
HGVS NC_000006.11:g.7542236G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018340.29, RCV000029685.5, RCV000038118.6, RCV000226589.2, RCV000234980.1, RCV000278014.1, RCV000415109.1,


[PMID 17499] Renal tubular acidosis.


[PMID 16917092] Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.


[PMID 18382419OA-icon.png] Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.


[PMID 19178614] Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.


[PMID 19892887OA-icon.png] Animal models of arrhythmogenic cardiomyopathy.


[PMID 20152563OA-icon.png] Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.