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rs148231754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148231754(C;T)
Make rs148231754(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178557248
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs148231754
dbSNP (classic)rs148231754
ClinGenrs148231754
ebirs148231754
HLIrs148231754
Exacrs148231754
Gnomadrs148231754
Varsomers148231754
LitVarrs148231754
Maprs148231754
PheGenIrs148231754
Biobankrs148231754
1000 genomesrs148231754
hgdprs148231754
ensemblrs148231754
geneviewrs148231754
scholarrs148231754
googlers148231754
pharmgkbrs148231754
gwascentralrs148231754
openSNPrs148231754
23andMers148231754
SNPshotrs148231754
SNPdbers148231754
MSV3drs148231754
GWAS Ctlgrs148231754
Max Magnitude0
ClinVar
Risk rs148231754(T;T)
Alt rs148231754(T;T)
Reference Rs148231754(C;C)
Significance Probable-Pathogenic
Disease not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN not provided Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179421975C>T
CLNSRC
CLNACC RCV000184394.2, RCV000231587.1,