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rs267607020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607020(C;C)
Make rs267607020(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53652712
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs267607020
ebirs267607020
HLIrs267607020
Exacrs267607020
Varsomers267607020
Maprs267607020
PheGenIrs267607020
hapmaprs267607020
1000 genomesrs267607020
hgdprs267607020
ensemblrs267607020
gopubmedrs267607020
geneviewrs267607020
scholarrs267607020
googlers267607020
pharmgkbrs267607020
gwascentralrs267607020
openSNPrs267607020
23andMers267607020
23andMe allrs267607020
SNP Nexus

SNPshotrs267607020
SNPdbers267607020
MSV3drs267607020
GWAS Ctlgrs267607020
Max Magnitude0
ClinVar
Risk rs267607020(C;C)
Alt rs267607020(C;C)
Reference rs267607020(T;T)
Significance Pathogenic
Disease COACH syndrome Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN COACH syndrome Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53686624A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001135.3, RCV000201757.1,