rs16866412

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs16866412(A;A)

Make rs16866412(A;G)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

178609941

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs16866412
dbSNP (classic)	rs16866412
ClinGen	rs16866412
ebi	rs16866412
HLI	rs16866412
Exac	rs16866412
Gnomad	rs16866412
Varsome	rs16866412
LitVar	rs16866412
Map	rs16866412
PheGenI	rs16866412
Biobank	rs16866412
1000 genomes	rs16866412
hgdp	rs16866412
ensembl	rs16866412
geneview	rs16866412
scholar	rs16866412
google	rs16866412
pharmgkb	rs16866412
gwascentral	rs16866412
openSNP	rs16866412
23andMe	rs16866412
SNPshot	rs16866412
SNPdbe	rs16866412
MSV3d	rs16866412
GWAS Ctlg	rs16866412

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

[PMID 28146470] 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,