rs2244492

Orientation

minus

Stabilized

minus

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

Make rs2244492(A;A)

Make rs2244492(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

178689578

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs2244492
dbSNP (classic)	rs2244492
ClinGen	rs2244492
ebi	rs2244492
HLI	rs2244492
Exac	rs2244492
Gnomad	rs2244492
Varsome	rs2244492
LitVar	rs2244492
Map	rs2244492
PheGenI	rs2244492
Biobank	rs2244492
1000 genomes	rs2244492
hgdp	rs2244492
ensembl	rs2244492
geneview	rs2244492
scholar	rs2244492
google	rs2244492
pharmgkb	rs2244492
gwascentral	rs2244492
openSNP	rs2244492
23andMe	rs2244492
SNPshot	rs2244492
SNPdbe	rs2244492
MSV3d	rs2244492
GWAS Ctlg	rs2244492

Max Magnitude

0

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

[PMID 26920143] Analysis of functional germline variants in APOBEC3 and driver genes on breast cancer risk in Moroccan study population.

ClinVar
Risk	rs2244492(A;A)
Alt	rs2244492(A;A)
Reference	Rs2244492(G;G)
Significance	Probable-non-pathogenic
Disease	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Myopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN
CLNDBN	not specified Cardiovascular phenotype Hypertrophic cardiomyopathy Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Myopathy, early-onset, with fatal cardiomyopathy Distal myopathy Markesbery-Griggs type Hereditary myopathy with early respiratory failure
Reversed	1
HGVS	NC_000002.11:g.179554305C>T
CLNSRC
CLNACC	RCV000040129.6, RCV000245743.1, RCV000266150.1, RCV000269588.1, RCV000305987.1, RCV000321271.1, RCV000360822.1, RCV000364010.1,