rs1057516955

Orientation

minus

Stabilized

minus

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

Make rs1057516955(-;-)

Make rs1057516955(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46193603

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516955
dbSNP (classic)	rs1057516955
ClinGen	rs1057516955
ebi	rs1057516955
HLI	rs1057516955
Exac	rs1057516955
Gnomad	rs1057516955
Varsome	rs1057516955
LitVar	rs1057516955
Map	rs1057516955
PheGenI	rs1057516955
Biobank	rs1057516955
1000 genomes	rs1057516955
hgdp	rs1057516955
ensembl	rs1057516955
geneview	rs1057516955
scholar	rs1057516955
google	rs1057516955
pharmgkb	rs1057516955
gwascentral	rs1057516955
openSNP	rs1057516955
23andMe	rs1057516955
SNPshot	rs1057516955
SNPdbe	rs1057516955
MSV3d	rs1057516955
GWAS Ctlg	rs1057516955

Max Magnitude

0

ClinVar
Risk	rs1057516955(-;-)
Alt	rs1057516955(-;-)
Reference	Rs1057516955(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.46659275delA
CLNSRC
CLNACC	RCV000409861.1,