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rs121918128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918128(A;A)
Make rs121918128(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position136430391
GeneINPP5E
is asnp
is mentioned by
dbSNPrs121918128
ebirs121918128
HLIrs121918128
Exacrs121918128
Varsomers121918128
Maprs121918128
PheGenIrs121918128
hapmaprs121918128
1000 genomesrs121918128
hgdprs121918128
ensemblrs121918128
gopubmedrs121918128
geneviewrs121918128
scholarrs121918128
googlers121918128
pharmgkbrs121918128
gwascentralrs121918128
openSNPrs121918128
23andMers121918128
23andMe allrs121918128
SNP Nexus

SNPshotrs121918128
SNPdbers121918128
MSV3drs121918128
GWAS Ctlgrs121918128
Max Magnitude0
OMIM613037
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918128(A;A)
Alt rs121918128(A;A)
Reference rs121918128(G;G)
Significance Pathogenic
Disease Joubert syndrome 1
Variation info
Gene INPP5E
CLNDBN Joubert syndrome 1
Reversed 1
HGVS NC_000009.11:g.139324843C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022403.3,