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rs13297509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs13297509(G;T)
Make rs13297509(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position136431830
GeneINPP5E
is asnp
is mentioned by
dbSNPrs13297509
ebirs13297509
HLIrs13297509
Exacrs13297509
Varsomers13297509
Maprs13297509
PheGenIrs13297509
hapmaprs13297509
1000 genomesrs13297509
hgdprs13297509
ensemblrs13297509
gopubmedrs13297509
geneviewrs13297509
scholarrs13297509
googlers13297509
pharmgkbrs13297509
gwascentralrs13297509
openSNPrs13297509
23andMers13297509
23andMe allrs13297509
SNP Nexus

SNPshotrs13297509
SNPdbers13297509
MSV3drs13297509
GWAS Ctlgrs13297509
Max Magnitude0
OMIM613037
Desc
Variant0002
Relatedalso


ClinVar
Risk rs13297509(A,T;A,T)
Alt rs13297509(A,T;A,T)
Reference rs13297509(G;G)
Significance Pathogenic
Disease Joubert syndrome 1
Variation info
Gene INPP5E
CLNDBN Joubert syndrome 1
Reversed 0
HGVS NC_000009.11:g.139326282G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022402.3,