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rs121918129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918129(A;A)
Make rs121918129(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position136432562
GeneINPP5E
is asnp
is mentioned by
dbSNPrs121918129
ebirs121918129
HLIrs121918129
Exacrs121918129
Varsomers121918129
Maprs121918129
PheGenIrs121918129
hapmaprs121918129
1000 genomesrs121918129
hgdprs121918129
ensemblrs121918129
gopubmedrs121918129
geneviewrs121918129
scholarrs121918129
googlers121918129
pharmgkbrs121918129
gwascentralrs121918129
openSNPrs121918129
23andMers121918129
23andMe allrs121918129
SNP Nexus

SNPshotrs121918129
SNPdbers121918129
MSV3drs121918129
GWAS Ctlgrs121918129
Max Magnitude0
OMIM613037
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918129(A;A)
Alt rs121918129(A;A)
Reference rs121918129(G;G)
Significance Pathogenic
Disease Joubert syndrome 1 Familial aplasia of the vermis
Variation info
Gene INPP5E
CLNDBN Joubert syndrome 1 Familial aplasia of the vermis
Reversed 1
HGVS NC_000009.11:g.139327014C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022404.3, RCV000201569.1,