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rs756433029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(I;I) 0 common genotype
(TTTCA;TTTCA) 0 common in clinvar
Make rs756433029(-;-)
Make rs756433029(-;ACTTT)
Make rs756433029(ACTTT;ACTTT)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178777235
GeneLOC101927055, TTN
is asnp
is mentioned by
dbSNPrs756433029
dbSNP (classic)rs756433029
ClinGenrs756433029
ebirs756433029
HLIrs756433029
Exacrs756433029
Gnomadrs756433029
Varsomers756433029
LitVarrs756433029
Maprs756433029
PheGenIrs756433029
Biobankrs756433029
1000 genomesrs756433029
hgdprs756433029
ensemblrs756433029
geneviewrs756433029
scholarrs756433029
googlers756433029
pharmgkbrs756433029
gwascentralrs756433029
openSNPrs756433029
23andMers756433029
SNPshotrs756433029
SNPdbers756433029
MSV3drs756433029
GWAS Ctlgrs756433029
Max Magnitude0
ClinVar
Risk rs756433029(-;-)
Alt rs756433029(-;-)
Reference Rs756433029(TTTCA;TTTCA)
Significance Probable-Pathogenic
Disease not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN LOC101927055
CLNDBN not provided Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179641962_179641966delTTTCA
CLNSRC
CLNACC RCV000184370.1, RCV000209800.1, RCV000226275.1,