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rs763822931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763822931(C;T)
Make rs763822931(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178566970
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs763822931
dbSNP (classic)rs763822931
ClinGenrs763822931
ebirs763822931
HLIrs763822931
Exacrs763822931
Gnomadrs763822931
Varsomers763822931
LitVarrs763822931
Maprs763822931
PheGenIrs763822931
Biobankrs763822931
1000 genomesrs763822931
hgdprs763822931
ensemblrs763822931
geneviewrs763822931
scholarrs763822931
googlers763822931
pharmgkbrs763822931
gwascentralrs763822931
openSNPrs763822931
23andMers763822931
SNPshotrs763822931
SNPdbers763822931
MSV3drs763822931
GWAS Ctlgrs763822931
Max Magnitude0
ClinVar
Risk rs763822931(A;A) rs763822931(T;T)
Alt rs763822931(A;A) rs763822931(T;T)
Reference Rs763822931(C;C)
Significance Probable-Pathogenic
Disease Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Myopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Dilated cardiomyopathy 1G Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179431697C>A
CLNSRC
CLNACC RCV000176816.1, RCV000295298.1, RCV000326361.1, RCV000331504.1, RCV000381037.1, RCV000386135.1,