rs1057517153

Orientation

minus

Stabilized

minus

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

Make rs1057517153(-;A)

Make rs1057517153(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46197019

Gene

POMGNT1

is a	snp
is	mentioned by
dbSNP	rs1057517153
dbSNP (classic)	rs1057517153
ClinGen	rs1057517153
ebi	rs1057517153
HLI	rs1057517153
Exac	rs1057517153
Gnomad	rs1057517153
Varsome	rs1057517153
LitVar	rs1057517153
Map	rs1057517153
PheGenI	rs1057517153
Biobank	rs1057517153
1000 genomes	rs1057517153
hgdp	rs1057517153
ensembl	rs1057517153
geneview	rs1057517153
scholar	rs1057517153
google	rs1057517153
pharmgkb	rs1057517153
gwascentral	rs1057517153
openSNP	rs1057517153
23andMe	rs1057517153
SNPshot	rs1057517153
SNPdbe	rs1057517153
MSV3d	rs1057517153
GWAS Ctlg	rs1057517153

Max Magnitude

0

ClinVar
Risk	rs1057517153(A;A)
Alt	rs1057517153(A;A)
Reference	Rs1057517153(-;-)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46662691_46662692insT
CLNSRC
CLNACC	RCV000412188.1,