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

rs121908675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908675(A;A)
Make rs121908675(A;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position33304434
GeneLARGE
is asnp
is mentioned by
dbSNPrs121908675
ebirs121908675
HLIrs121908675
Exacrs121908675
Varsomers121908675
Maprs121908675
PheGenIrs121908675
hapmaprs121908675
1000 genomesrs121908675
hgdprs121908675
ensemblrs121908675
gopubmedrs121908675
geneviewrs121908675
scholarrs121908675
googlers121908675
pharmgkbrs121908675
gwascentralrs121908675
openSNPrs121908675
23andMers121908675
23andMe allrs121908675
SNP Nexus

SNPshotrs121908675
SNPdbers121908675
MSV3drs121908675
GWAS Ctlgrs121908675
Max Magnitude0
OMIM603590
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908675(A;A)
Alt rs121908675(A;A)
Reference rs121908675(G;G)
Significance Pathogenic
Disease Congenital muscular dystrophy-dystroglycanopathy with mental retardation
Variation info
Gene LARGE
CLNDBN Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
Reversed 1
HGVS NC_000022.10:g.33700420C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006594.4,