rs1057516903

Orientation

minus

Stabilized

minus

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

Make rs1057516903(-;-)

Make rs1057516903(-;CT)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46189944

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516903
dbSNP (classic)	rs1057516903
ClinGen	rs1057516903
ebi	rs1057516903
HLI	rs1057516903
Exac	rs1057516903
Gnomad	rs1057516903
Varsome	rs1057516903
LitVar	rs1057516903
Map	rs1057516903
PheGenI	rs1057516903
Biobank	rs1057516903
1000 genomes	rs1057516903
hgdp	rs1057516903
ensembl	rs1057516903
geneview	rs1057516903
scholar	rs1057516903
google	rs1057516903
pharmgkb	rs1057516903
gwascentral	rs1057516903
openSNP	rs1057516903
23andMe	rs1057516903
SNPshot	rs1057516903
SNPdbe	rs1057516903
MSV3d	rs1057516903
GWAS Ctlg	rs1057516903

Max Magnitude

0

ClinVar
Risk	rs1057516903(-;-)
Alt	rs1057516903(-;-)
Reference	Rs1057516903(CT;CT)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655616_46655617delAG
CLNSRC
CLNACC	RCV000410825.1,