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rs16866412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs16866412(A;A)
Make rs16866412(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position178609941
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs16866412
dbSNP (classic)rs16866412
ClinGenrs16866412
ebirs16866412
HLIrs16866412
Exacrs16866412
Gnomadrs16866412
Varsomers16866412
LitVarrs16866412
Maprs16866412
PheGenIrs16866412
Biobankrs16866412
1000 genomesrs16866412
hgdprs16866412
ensemblrs16866412
geneviewrs16866412
scholarrs16866412
googlers16866412
pharmgkbrs16866412
gwascentralrs16866412
openSNPrs16866412
23andMers16866412
23andMe allrs16866412
SNPshotrs16866412
SNPdbers16866412
MSV3drs16866412
GWAS Ctlgrs16866412
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 28146470OA-icon.png] Rare and low-frequency coding variants alter human adult height.


ClinVar
Risk rs16866412(A;A)
Alt rs16866412(A;A)
Reference Rs16866412(G;G)
Significance Probable-non-pathogenic
Disease not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Myopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy Dilated Cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure Limb-Girdle Muscular Dystrophy, Recessive Dilated Cardiomyopathy, Dominant Distal myopathy Markesbery-Griggs type Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J
Reversed 0
HGVS NC_000002.11:g.179474668G>A
CLNSRC
CLNACC RCV000040323.6, RCV000244693.1, RCV000298008.1, RCV000301448.1, RCV000356210.1, RCV000370266.1, RCV000396718.1, RCV000406062.1, RCV000468433.1,