rs1057516477

Orientation

minus

Stabilized

minus

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

Make rs1057516477(G;T)

Make rs1057516477(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46196850

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516477
dbSNP (classic)	rs1057516477
ClinGen	rs1057516477
ebi	rs1057516477
HLI	rs1057516477
Exac	rs1057516477
Gnomad	rs1057516477
Varsome	rs1057516477
LitVar	rs1057516477
Map	rs1057516477
PheGenI	rs1057516477
Biobank	rs1057516477
1000 genomes	rs1057516477
hgdp	rs1057516477
ensembl	rs1057516477
geneview	rs1057516477
scholar	rs1057516477
google	rs1057516477
pharmgkb	rs1057516477
gwascentral	rs1057516477
openSNP	rs1057516477
23andMe	rs1057516477
SNPshot	rs1057516477
SNPdbe	rs1057516477
MSV3d	rs1057516477
GWAS Ctlg	rs1057516477

Max Magnitude

0

ClinVar
Risk	rs1057516477(T;T)
Alt	rs1057516477(T;T)
Reference	Rs1057516477(G;G)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46662522C>A
CLNSRC
CLNACC	RCV000409804.1,