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rs267606960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606960(A;A)
Make rs267606960(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position46192168
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs267606960
ebirs267606960
HLIrs267606960
Exacrs267606960
Varsomers267606960
Maprs267606960
PheGenIrs267606960
hapmaprs267606960
1000 genomesrs267606960
hgdprs267606960
ensemblrs267606960
gopubmedrs267606960
geneviewrs267606960
scholarrs267606960
googlers267606960
pharmgkbrs267606960
gwascentralrs267606960
openSNPrs267606960
23andMers267606960
23andMe allrs267606960
SNP Nexus

SNPshotrs267606960
SNPdbers267606960
MSV3drs267606960
GWAS Ctlgrs267606960
Max Magnitude0
ClinVar
Risk rs267606960(A;A)
Alt rs267606960(A;A)
Reference rs267606960(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene POMGNT1
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Reversed 1
HGVS NC_000001.10:g.46657840C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004207.2,