rs1057516576

Orientation

minus

Stabilized

minus

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

Make rs1057516576(-;-)

Make rs1057516576(-;ACGT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46192096

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516576
dbSNP (classic)	rs1057516576
ClinGen	rs1057516576
ebi	rs1057516576
HLI	rs1057516576
Exac	rs1057516576
Gnomad	rs1057516576
Varsome	rs1057516576
LitVar	rs1057516576
Map	rs1057516576
PheGenI	rs1057516576
Biobank	rs1057516576
1000 genomes	rs1057516576
hgdp	rs1057516576
ensembl	rs1057516576
geneview	rs1057516576
scholar	rs1057516576
google	rs1057516576
pharmgkb	rs1057516576
gwascentral	rs1057516576
openSNP	rs1057516576
23andMe	rs1057516576
SNPshot	rs1057516576
SNPdbe	rs1057516576
MSV3d	rs1057516576
GWAS Ctlg	rs1057516576

Max Magnitude

0

ClinVar
Risk	rs1057516576(-;-)
Alt	rs1057516576(-;-)
Reference	Rs1057516576(ACGT;ACGT)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46657768_46657771delACGT
CLNSRC
CLNACC	RCV000412386.1,