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rs587777822

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777822(-;-)
Make rs587777822(-;A)
ReferenceGRCh38 38.1/142
Chromosome1
Position46189521
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs587777822
ebirs587777822
HLIrs587777822
Exacrs587777822
Varsomers587777822
Maprs587777822
PheGenIrs587777822
hapmaprs587777822
1000 genomesrs587777822
hgdprs587777822
ensemblrs587777822
gopubmedrs587777822
geneviewrs587777822
scholarrs587777822
googlers587777822
pharmgkbrs587777822
gwascentralrs587777822
openSNPrs587777822
23andMers587777822
23andMe allrs587777822
SNP Nexus

SNPshotrs587777822
SNPdbers587777822
MSV3drs587777822
GWAS Ctlgrs587777822
Max Magnitude0
ClinVar
Risk rs587777822(;)
Alt rs587777822(;)
Reference rs587777822(A;A)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
Reversed 0
HGVS NC_000001.10:g.46655193delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004202.3,