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rs375159973

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs375159973(A;G)
Make rs375159973(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178534401
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs375159973
dbSNP (classic)rs375159973
ClinGenrs375159973
ebirs375159973
HLIrs375159973
Exacrs375159973
Gnomadrs375159973
Varsomers375159973
LitVarrs375159973
Maprs375159973
PheGenIrs375159973
Biobankrs375159973
1000 genomesrs375159973
hgdprs375159973
ensemblrs375159973
geneviewrs375159973
scholarrs375159973
googlers375159973
pharmgkbrs375159973
gwascentralrs375159973
openSNPrs375159973
23andMers375159973
SNPshotrs375159973
SNPdbers375159973
MSV3drs375159973
GWAS Ctlgrs375159973
Max Magnitude0
ClinVar
Risk rs375159973(G;G)
Alt rs375159973(G;G)
Reference Rs375159973(A;A)
Significance Pathogenic
Disease Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Myopathy, early-onset, with fatal cardiomyopathy
Reversed 0
HGVS NC_000002.11:g.179399128A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000472652.1, RCV000490792.1,