rs202094100

Orientation

plus

Stabilized

plus

Make rs202094100(A;A)

Make rs202094100(A;C)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

178613870

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs202094100
dbSNP (classic)	rs202094100
ClinGen	rs202094100
ebi	rs202094100
HLI	rs202094100
Exac	rs202094100
Gnomad	rs202094100
Varsome	rs202094100
LitVar	rs202094100
Map	rs202094100
PheGenI	rs202094100
Biobank	rs202094100
1000 genomes	rs202094100
hgdp	rs202094100
ensembl	rs202094100
geneview	rs202094100
scholar	rs202094100
google	rs202094100
pharmgkb	rs202094100
gwascentral	rs202094100
openSNP	rs202094100
23andMe	rs202094100
SNPshot	rs202094100
SNPdbe	rs202094100
MSV3d	rs202094100
GWAS Ctlg	rs202094100

Max Magnitude

0

ClinVar
Risk	rs202094100(A;A) rs202094100(T;T)
Alt	rs202094100(A;A) rs202094100(T;T)
Reference	Rs202094100(C;C)
Significance	Pathogenic
Disease	not specified not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy Limb-Girdle Muscular Dystrophy Myopathy Hereditary myopathy with early respiratory failure
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not specified not provided Cardiovascular phenotype Hypertrophic cardiomyopathy Distal myopathy Markesbery-Griggs type Dilated Cardiomyopathy, Dominant Limb-Girdle Muscular Dystrophy, Recessive Myopathy, early-onset, with fatal cardiomyopathy Hereditary myopathy with early respiratory failure
Reversed	0
HGVS	NC_000002.11:g.179478597C>A; NC_000002.11:g.179478597C>T
CLNSRC	Illumina
CLNACC	RCV000040300.2, RCV000184581.1, RCV000248683.1, RCV000262625.1, RCV000275689.1, RCV000317820.1, RCV000330719.1, RCV000357355.1, RCV000372520.1, RCV000255219.1,