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rs72648263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72648263(A;A)
Make rs72648263(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178545457
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs72648263
dbSNP (old)rs72648263
ClinGenrs72648263
ebirs72648263
HLIrs72648263
Exacrs72648263
Gnomadrs72648263
Varsomers72648263
Maprs72648263
PheGenIrs72648263
Biobankrs72648263
1000 genomesrs72648263
hgdprs72648263
ensemblrs72648263
gopubmedrs72648263
geneviewrs72648263
scholarrs72648263
googlers72648263
pharmgkbrs72648263
gwascentralrs72648263
openSNPrs72648263
23andMers72648263
23andMe allrs72648263
SNP Nexus

SNPshotrs72648263
SNPdbers72648263
MSV3drs72648263
GWAS Ctlgrs72648263
Max Magnitude0
ClinVar
Risk rs72648263(A;A)
Alt rs72648263(A;A)
Reference Rs72648263(G;G)
Significance Probable-non-pathogenic
Disease not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Distal myopathy Markesbery-Griggs type Limb-Girdle Muscular Dystrophy Myopathy Dilated Cardiomyopathy Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy
Variation info
Gene TTN TTN-AS1
CLNDBN not specified not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Distal myopathy Markesbery-Griggs type Limb-Girdle Muscular Dystrophy, Recessive Myopathy, early-onset, with fatal cardiomyopathy Dilated Cardiomyopathy, Dominant Hereditary myopathy with early respiratory failure Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000002.11:g.179410184C>T
CLNSRC
CLNACC RCV000040830.5, RCV000172615.4, RCV000226347.2, RCV000270075.1, RCV000292373.1, RCV000327509.1, RCV000349608.1, RCV000380825.1, RCV000384137.1,