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rs199476319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199476319(A;G)
Make rs199476319(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63062615
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476319
dbSNP (classic)rs199476319
ClinGenrs199476319
ebirs199476319
HLIrs199476319
Exacrs199476319
Gnomadrs199476319
Varsomers199476319
LitVarrs199476319
Maprs199476319
PheGenIrs199476319
Biobankrs199476319
1000 genomesrs199476319
hgdprs199476319
ensemblrs199476319
geneviewrs199476319
scholarrs199476319
googlers199476319
pharmgkbrs199476319
gwascentralrs199476319
openSNPrs199476319
23andMers199476319
SNPshotrs199476319
SNPdbers199476319
MSV3drs199476319
GWAS Ctlgrs199476319
Max Magnitude0
ClinVar
Risk rs199476319(G;G)
Alt rs199476319(G;G)
Reference Rs199476319(A;A)
Significance Pathogenic
Disease not provided Left ventricular noncompaction 9
Variation info
Gene TPM1
CLNDBN not provided Left ventricular noncompaction 9
Reversed 0
HGVS NC_000015.9:g.63354814A>G
CLNSRC Leiden Muscular Dystrophy pages (TPM1) OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024597.1, RCV000054794.23,