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rs121918130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918130(C;T)
Make rs121918130(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136433182
GeneINPP5E
is asnp
is mentioned by
dbSNPrs121918130
ebirs121918130
HLIrs121918130
Exacrs121918130
Varsomers121918130
Maprs121918130
PheGenIrs121918130
hapmaprs121918130
1000 genomesrs121918130
hgdprs121918130
ensemblrs121918130
gopubmedrs121918130
geneviewrs121918130
scholarrs121918130
googlers121918130
pharmgkbrs121918130
gwascentralrs121918130
openSNPrs121918130
23andMers121918130
23andMe allrs121918130
SNP Nexus

SNPshotrs121918130
SNPdbers121918130
MSV3drs121918130
GWAS Ctlgrs121918130
Max Magnitude0
OMIM613037
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918130(T;T)
Alt rs121918130(T;T)
Reference rs121918130(C;C)
Significance Pathogenic
Disease Joubert syndrome 1
Variation info
Gene INPP5E
CLNDBN Joubert syndrome 1
Reversed 1
HGVS NC_000009.11:g.139327634G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022405.3,