rs1057516409

Orientation

minus

Stabilized

minus

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

Make rs1057516409(-;-)

Make rs1057516409(-;TAGGCTGGAATGACCAGG)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46192499

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516409
dbSNP (classic)	rs1057516409
ClinGen	rs1057516409
ebi	rs1057516409
HLI	rs1057516409
Exac	rs1057516409
Gnomad	rs1057516409
Varsome	rs1057516409
LitVar	rs1057516409
Map	rs1057516409
PheGenI	rs1057516409
Biobank	rs1057516409
1000 genomes	rs1057516409
hgdp	rs1057516409
ensembl	rs1057516409
geneview	rs1057516409
scholar	rs1057516409
google	rs1057516409
pharmgkb	rs1057516409
gwascentral	rs1057516409
openSNP	rs1057516409
23andMe	rs1057516409
SNPshot	rs1057516409
SNPdbe	rs1057516409
MSV3d	rs1057516409
GWAS Ctlg	rs1057516409

Max Magnitude

0

ClinVar
Risk	rs1057516409(-;-)
Alt	rs1057516409(-;-)
Reference	Rs1057516409(TAGGCTGGAATGACCAGG;TAGGCTGGAATGACCAGG)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46658171_46658188del18
CLNSRC
CLNACC	RCV000411800.1,