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rs199476146

From SNPedia

Orientationminus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs199476146(-;-)
Make rs199476146(-;AGA)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position35689796
GeneTPM2
is asnp
is mentioned by
dbSNPrs199476146
ebirs199476146
HLIrs199476146
Exacrs199476146
Varsomers199476146
Maprs199476146
PheGenIrs199476146
hapmaprs199476146
1000 genomesrs199476146
hgdprs199476146
ensemblrs199476146
gopubmedrs199476146
geneviewrs199476146
scholarrs199476146
googlers199476146
pharmgkbrs199476146
gwascentralrs199476146
openSNPrs199476146
23andMers199476146
23andMe allrs199476146
SNP Nexus

SNPshotrs199476146
SNPdbers199476146
MSV3drs199476146
GWAS Ctlgrs199476146
Max Magnitude0
ClinVar
Risk rs199476146(;)
Alt rs199476146(;)
Reference rs199476146(AGA;AGA)
Significance Pathogenic
Disease not provided Nemaline myopathy 4
Variation info
Gene TPM2
CLNDBN not provided Nemaline myopathy 4
Reversed 1
HGVS NC_000009.11:g.35689793_35689795delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000128675.1, RCV000223947.1,