rs1057516536

Orientation

minus

Stabilized

minus

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

Make rs1057516536(-;-)

Make rs1057516536(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46193389

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516536
dbSNP (classic)	rs1057516536
ClinGen	rs1057516536
ebi	rs1057516536
HLI	rs1057516536
Exac	rs1057516536
Gnomad	rs1057516536
Varsome	rs1057516536
LitVar	rs1057516536
Map	rs1057516536
PheGenI	rs1057516536
Biobank	rs1057516536
1000 genomes	rs1057516536
hgdp	rs1057516536
ensembl	rs1057516536
geneview	rs1057516536
scholar	rs1057516536
google	rs1057516536
pharmgkb	rs1057516536
gwascentral	rs1057516536
openSNP	rs1057516536
23andMe	rs1057516536
SNPshot	rs1057516536
SNPdbe	rs1057516536
MSV3d	rs1057516536
GWAS Ctlg	rs1057516536

Max Magnitude

0

ClinVar
Risk	rs1057516536(-;-)
Alt	rs1057516536(-;-)
Reference	Rs1057516536(AG;AG)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46659061_46659062delCT
CLNSRC
CLNACC	RCV000408976.1,