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rs372277017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs372277017(A;A)
Make rs372277017(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position178733497
GeneTTN
is asnp
is mentioned by
dbSNPrs372277017
dbSNP (classic)rs372277017
ClinGenrs372277017
ebirs372277017
HLIrs372277017
Exacrs372277017
Gnomadrs372277017
Varsomers372277017
LitVarrs372277017
Maprs372277017
PheGenIrs372277017
Biobankrs372277017
1000 genomesrs372277017
hgdprs372277017
ensemblrs372277017
geneviewrs372277017
scholarrs372277017
googlers372277017
pharmgkbrs372277017
gwascentralrs372277017
openSNPrs372277017
23andMers372277017
SNPshotrs372277017
SNPdbers372277017
MSV3drs372277017
GWAS Ctlgrs372277017
Max Magnitude0
ClinVar
Risk rs372277017(A;A)
Alt rs372277017(A;A)
Reference Rs372277017(G;G)
Significance Pathogenic
Disease Distal myopathy Markesbery-Griggs type
Variation info
Gene TTN
CLNDBN Distal myopathy Markesbery-Griggs type
Reversed 0
HGVS NC_000002.11:g.179598224G>A
CLNSRC ClinVar
CLNACC RCV000118735.1,