rs1057516318

Orientation

minus

Stabilized

minus

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

Make rs1057516318(C;C)

Make rs1057516318(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46194272

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516318
dbSNP (classic)	rs1057516318
ClinGen	rs1057516318
ebi	rs1057516318
HLI	rs1057516318
Exac	rs1057516318
Gnomad	rs1057516318
Varsome	rs1057516318
LitVar	rs1057516318
Map	rs1057516318
PheGenI	rs1057516318
Biobank	rs1057516318
1000 genomes	rs1057516318
hgdp	rs1057516318
ensembl	rs1057516318
geneview	rs1057516318
scholar	rs1057516318
google	rs1057516318
pharmgkb	rs1057516318
gwascentral	rs1057516318
openSNP	rs1057516318
23andMe	rs1057516318
SNPshot	rs1057516318
SNPdbe	rs1057516318
MSV3d	rs1057516318
GWAS Ctlg	rs1057516318

Max Magnitude

0

ClinVar
Risk	rs1057516318(C;C)
Alt	rs1057516318(C;C)
Reference	Rs1057516318(T;T)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46659944A>G
CLNSRC
CLNACC	RCV000412480.1,