Have questions? Visit https://www.reddit.com/r/SNPedia

rs751254522

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs751254522(-;-)
Make rs751254522(-;A)
Make rs751254522(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position46193578
GenePOMGNT1, TSPAN1
is asnp
is mentioned by
dbSNPrs751254522
ebirs751254522
HLIrs751254522
Exacrs751254522
Varsomers751254522
Maprs751254522
PheGenIrs751254522
hapmaprs751254522
1000 genomesrs751254522
hgdprs751254522
ensemblrs751254522
gopubmedrs751254522
geneviewrs751254522
scholarrs751254522
googlers751254522
pharmgkbrs751254522
gwascentralrs751254522
openSNPrs751254522
23andMers751254522
23andMe allrs751254522
SNP Nexus

SNPshotrs751254522
SNPdbers751254522
MSV3drs751254522
GWAS Ctlgrs751254522
Max Magnitude0
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,