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rs142000963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142000963(C;T)
Make rs142000963(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position156138719
GeneLMNA
is asnp
is mentioned by
dbSNPrs142000963
dbSNP (classic)rs142000963
ClinGenrs142000963
ebirs142000963
HLIrs142000963
Exacrs142000963
Gnomadrs142000963
Varsomers142000963
LitVarrs142000963
Maprs142000963
PheGenIrs142000963
Biobankrs142000963
1000 genomesrs142000963
hgdprs142000963
ensemblrs142000963
geneviewrs142000963
scholarrs142000963
googlers142000963
pharmgkbrs142000963
gwascentralrs142000963
openSNPrs142000963
23andMers142000963
SNPshotrs142000963
SNPdbers142000963
MSV3drs142000963
GWAS Ctlgrs142000963
Max Magnitude0
ClinVar
Risk rs142000963(A;A) rs142000963(T;T)
Alt rs142000963(A;A) rs142000963(T;T)
Reference Rs142000963(C;C)
Significance Other
Disease not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN not provided Variant of unknown significance not specified Charcot-Marie-Tooth disease Primary dilated cardiomyopathy Cardiovascular phenotype Charcot-Marie-Tooth disease, type 2
Reversed 0
HGVS NC_000001.10:g.156108510C>A; NC_000001.10:g.156108510C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000057373.1, RCV000015626.5, RCV000041340.4, RCV000057374.4, RCV000144868.1, RCV000148602.1, RCV000245284.1, RCV000471403.1,