rs1057516986

Orientation

minus

Stabilized

minus

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

Make rs1057516986(-;-)

Make rs1057516986(-;TTTC)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

46189941

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs1057516986
dbSNP (classic)	rs1057516986
ClinGen	rs1057516986
ebi	rs1057516986
HLI	rs1057516986
Exac	rs1057516986
Gnomad	rs1057516986
Varsome	rs1057516986
LitVar	rs1057516986
Map	rs1057516986
PheGenI	rs1057516986
Biobank	rs1057516986
1000 genomes	rs1057516986
hgdp	rs1057516986
ensembl	rs1057516986
geneview	rs1057516986
scholar	rs1057516986
google	rs1057516986
pharmgkb	rs1057516986
gwascentral	rs1057516986
openSNP	rs1057516986
23andMe	rs1057516986
SNPshot	rs1057516986
SNPdbe	rs1057516986
MSV3d	rs1057516986
GWAS Ctlg	rs1057516986

Max Magnitude

0

ClinVar
Risk	rs1057516986(-;-)
Alt	rs1057516986(-;-)
Reference	Rs1057516986(TTTC;TTTC)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	1
HGVS	NC_000001.10:g.46655613_46655616delGAAA
CLNSRC
CLNACC	RCV000409168.1,