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rs72646867

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72646867(C;T)
Make rs72646867(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178583028
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs72646867
dbSNP (old)rs72646867
ClinGenrs72646867
ebirs72646867
HLIrs72646867
Exacrs72646867
Gnomadrs72646867
Varsomers72646867
Maprs72646867
PheGenIrs72646867
Biobankrs72646867
1000 genomesrs72646867
hgdprs72646867
ensemblrs72646867
gopubmedrs72646867
geneviewrs72646867
scholarrs72646867
googlers72646867
pharmgkbrs72646867
gwascentralrs72646867
openSNPrs72646867
23andMers72646867
23andMe allrs72646867
SNP Nexus

SNPshotrs72646867
SNPdbers72646867
MSV3drs72646867
GWAS Ctlgrs72646867
Max Magnitude0
ClinVar
Risk rs72646867(A;A) rs72646867(T;T)
Alt rs72646867(A;A) rs72646867(T;T)
Reference Rs72646867(C;C)
Significance Non-pathogenic
Disease not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Dilated Cardiomyopathy Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy Distal myopathy Markesbery-Griggs type Myopathy Hereditary myopathy with early respiratory failure
Variation info
Gene TTN TTN-AS1
CLNDBN not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy Limb-Girdle Muscular Dystrophy, Recessive Distal myopathy Markesbery-Griggs type Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure
Reversed 1
HGVS NC_000002.11:g.179447755G>A
CLNSRC
CLNACC RCV000040500.6, RCV000225958.2, RCV000274823.1, RCV000290347.1, RCV000326526.1, RCV000329910.1, RCV000369611.1, RCV000384695.1,