rs1057516871

Orientation

minus

Stabilized

minus

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

Make rs1057516871(A;G)

Make rs1057516871(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46197086

Gene

POMGNT1

is a	snp
is	mentioned by
dbSNP	rs1057516871
dbSNP (classic)	rs1057516871
ClinGen	rs1057516871
ebi	rs1057516871
HLI	rs1057516871
Exac	rs1057516871
Gnomad	rs1057516871
Varsome	rs1057516871
LitVar	rs1057516871
Map	rs1057516871
PheGenI	rs1057516871
Biobank	rs1057516871
1000 genomes	rs1057516871
hgdp	rs1057516871
ensembl	rs1057516871
geneview	rs1057516871
scholar	rs1057516871
google	rs1057516871
pharmgkb	rs1057516871
gwascentral	rs1057516871
openSNP	rs1057516871
23andMe	rs1057516871
SNPshot	rs1057516871
SNPdbe	rs1057516871
MSV3d	rs1057516871
GWAS Ctlg	rs1057516871

Max Magnitude

0

ClinVar
Risk	rs1057516871(G;G)
Alt	rs1057516871(G;G)
Reference	Rs1057516871(A;A)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46662758T>C
CLNSRC
CLNACC	RCV000412225.1,