rs1060500471

Orientation

minus

Stabilized

minus

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

Make rs1060500471(C;T)

Make rs1060500471(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

178534554

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs1060500471
dbSNP (classic)	rs1060500471
ClinGen	rs1060500471
ebi	rs1060500471
HLI	rs1060500471
Exac	rs1060500471
Gnomad	rs1060500471
Varsome	rs1060500471
LitVar	rs1060500471
Map	rs1060500471
PheGenI	rs1060500471
Biobank	rs1060500471
1000 genomes	rs1060500471
hgdp	rs1060500471
ensembl	rs1060500471
geneview	rs1060500471
scholar	rs1060500471
google	rs1060500471
pharmgkb	rs1060500471
gwascentral	rs1060500471
openSNP	rs1060500471
23andMe	rs1060500471
SNPshot	rs1060500471
SNPdbe	rs1060500471
MSV3d	rs1060500471
GWAS Ctlg	rs1060500471

Max Magnitude

0

ClinVar
Risk	rs1060500471(T;T)
Alt	rs1060500471(T;T)
Reference	Rs1060500471(C;C)
Significance	Probable-Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	TTN TTN-AS1
CLNDBN	Limb-girdle muscular dystrophy, type 2J
Reversed	1
HGVS	NC_000002.11:g.179399281G>A
CLNSRC
CLNACC	RCV000471829.1,