rs1060500505

Orientation

minus

Stabilized

minus

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

Make rs1060500505(A;A)

Make rs1060500505(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

178533241

Gene	TTN, TTN-AS1

is a	snp
is	mentioned by
dbSNP	rs1060500505
dbSNP (classic)	rs1060500505
ClinGen	rs1060500505
ebi	rs1060500505
HLI	rs1060500505
Exac	rs1060500505
Gnomad	rs1060500505
Varsome	rs1060500505
LitVar	rs1060500505
Map	rs1060500505
PheGenI	rs1060500505
Biobank	rs1060500505
1000 genomes	rs1060500505
hgdp	rs1060500505
ensembl	rs1060500505
geneview	rs1060500505
scholar	rs1060500505
google	rs1060500505
pharmgkb	rs1060500505
gwascentral	rs1060500505
openSNP	rs1060500505
23andMe	rs1060500505
SNPshot	rs1060500505
SNPdbe	rs1060500505
MSV3d	rs1060500505
GWAS Ctlg	rs1060500505

Max Magnitude

0

ClinVar
Risk	rs1060500505(A;A)
Alt	rs1060500505(A;A)
Reference	Rs1060500505(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.179397968G>T
CLNSRC
CLNACC	RCV000473864.1,