rs757082154

Orientation

plus

Stabilized

plus

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

Make rs757082154(A;A)

Make rs757082154(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

178527491

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs757082154
dbSNP (classic)	rs757082154
ClinGen	rs757082154
ebi	rs757082154
HLI	rs757082154
Exac	rs757082154
Gnomad	rs757082154
Varsome	rs757082154
LitVar	rs757082154
Map	rs757082154
PheGenI	rs757082154
Biobank	rs757082154
1000 genomes	rs757082154
hgdp	rs757082154
ensembl	rs757082154
geneview	rs757082154
scholar	rs757082154
google	rs757082154
pharmgkb	rs757082154
gwascentral	rs757082154
openSNP	rs757082154
23andMe	rs757082154
SNPshot	rs757082154
SNPdbe	rs757082154
MSV3d	rs757082154
GWAS Ctlg	rs757082154

Max Magnitude

0

ClinVar
Risk	rs757082154(A;A)
Alt	rs757082154(A;A)
Reference	Rs757082154(G;G)
Significance	Probable-Pathogenic
Disease	not specified Decreased patellar reflex Limb-girdle muscular dystrophy Muscular dystrophy Proximal lower limb amyotrophy Waddling gait Lower limb muscle weakness Myopathy Rimmed vacuoles Limb-girdle muscle atrophy Limb-girdle muscle weakness
Variation	info
Gene	TTN TTN-AS1
CLNDBN	not specified Decreased patellar reflex Limb-girdle muscular dystrophy Muscular dystrophy Proximal lower limb amyotrophy Waddling gait Lower limb muscle weakness Myopathy Rimmed vacuoles Limb-girdle muscle atrophy Limb-girdle muscle weakness
Reversed	0
HGVS	NC_000002.11:g.179392218G>A
CLNSRC
CLNACC	RCV000184398.2, RCV000414825.1, RCV000414850.1, RCV000415078.1,