rs751254522

Orientation

plus

Stabilized

plus

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

Make rs751254522(-;A)

Make rs751254522(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

46193578

Gene	POMGNT1, TSPAN1

is a	snp
is	mentioned by
dbSNP	rs751254522
dbSNP (classic)	rs751254522
ClinGen	rs751254522
ebi	rs751254522
HLI	rs751254522
Exac	rs751254522
Gnomad	rs751254522
Varsome	rs751254522
LitVar	rs751254522
Map	rs751254522
PheGenI	rs751254522
Biobank	rs751254522
1000 genomes	rs751254522
hgdp	rs751254522
ensembl	rs751254522
geneview	rs751254522
scholar	rs751254522
google	rs751254522
pharmgkb	rs751254522
gwascentral	rs751254522
openSNP	rs751254522
23andMe	rs751254522
SNPshot	rs751254522
SNPdbe	rs751254522
MSV3d	rs751254522
GWAS Ctlg	rs751254522

Max Magnitude

0

ClinVar
Risk	rs751254522(A;A)
Alt	rs751254522(A;A)
Reference	Rs751254522(-;-)
Significance	Probable-Pathogenic
Disease	Muscle eye brain disease
Variation	info
Gene	POMGNT1
CLNDBN	Muscle eye brain disease
Reversed	0
HGVS	NC_000001.10:g.46659251dupA
CLNSRC
CLNACC	RCV000169509.1,