rs1057516478

Orientation

minus

Stabilized

minus

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

Make rs1057516478(CTGG;GTGA)

Make rs1057516478(GTGA;GTGA)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46197759

Gene

POMGNT1

is a	snp
is	mentioned by
dbSNP	rs1057516478
dbSNP (classic)	rs1057516478
ClinGen	rs1057516478
ebi	rs1057516478
HLI	rs1057516478
Exac	rs1057516478
Gnomad	rs1057516478
Varsome	rs1057516478
LitVar	rs1057516478
Map	rs1057516478
PheGenI	rs1057516478
Biobank	rs1057516478
1000 genomes	rs1057516478
hgdp	rs1057516478
ensembl	rs1057516478
geneview	rs1057516478
scholar	rs1057516478
google	rs1057516478
pharmgkb	rs1057516478
gwascentral	rs1057516478
openSNP	rs1057516478
23andMe	rs1057516478
SNPshot	rs1057516478
SNPdbe	rs1057516478
MSV3d	rs1057516478
GWAS Ctlg	rs1057516478

Max Magnitude

0

ClinVar
Risk	rs1057516478(GTGA;GTGA)
Alt	rs1057516478(GTGA;GTGA)
Reference	Rs1057516478(CTGG;CTGG)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46663431_46663434delCCAGinsTCAC
CLNSRC
CLNACC	RCV000410976.1,