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rs267606961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606961(A;A)
Make rs267606961(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192212
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs267606961
ebirs267606961
HLIrs267606961
Exacrs267606961
Varsomers267606961
Maprs267606961
PheGenIrs267606961
hapmaprs267606961
1000 genomesrs267606961
hgdprs267606961
ensemblrs267606961
gopubmedrs267606961
geneviewrs267606961
scholarrs267606961
googlers267606961
pharmgkbrs267606961
gwascentralrs267606961
openSNPrs267606961
23andMers267606961
23andMe allrs267606961
SNP Nexus

SNPshotrs267606961
SNPdbers267606961
MSV3drs267606961
GWAS Ctlgrs267606961
Max Magnitude0
ClinVar
Risk rs267606961(A;A)
Alt rs267606961(A;A)
Reference rs267606961(G;G)
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 1
HGVS NC_000001.10:g.46657884C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004203.3,