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rs121908142

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908142(C;C)
Make rs121908142(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position150928186
GeneCLRN1
is asnp
is mentioned by
dbSNPrs121908142
dbSNP (classic)rs121908142
ClinGenrs121908142
ebirs121908142
HLIrs121908142
Exacrs121908142
Gnomadrs121908142
Varsomers121908142
LitVarrs121908142
Maprs121908142
PheGenIrs121908142
Biobankrs121908142
1000 genomesrs121908142
hgdprs121908142
ensemblrs121908142
geneviewrs121908142
scholarrs121908142
googlers121908142
pharmgkbrs121908142
gwascentralrs121908142
openSNPrs121908142
23andMers121908142
SNPshotrs121908142
SNPdbers121908142
MSV3drs121908142
GWAS Ctlgrs121908142
Max Magnitude0
OMIM606397
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908142(C;C)
Alt rs121908142(C;C)
Reference Rs121908142(T;T)
Significance Pathogenic
Disease Usher syndrome
Variation info
Gene CLRN1
CLNDBN Usher syndrome, type 3A
Reversed 1
HGVS NC_000003.11:g.150645973A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004646.4,