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rs145665129

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145665129(A;A)
Make rs145665129(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position53645895
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs145665129
ebirs145665129
HLIrs145665129
Exacrs145665129
Varsomers145665129
Maprs145665129
PheGenIrs145665129
hapmaprs145665129
1000 genomesrs145665129
hgdprs145665129
ensemblrs145665129
gopubmedrs145665129
geneviewrs145665129
scholarrs145665129
googlers145665129
pharmgkbrs145665129
gwascentralrs145665129
openSNPrs145665129
23andMers145665129
23andMe allrs145665129
SNP Nexus

SNPshotrs145665129
SNPdbers145665129
MSV3drs145665129
GWAS Ctlgrs145665129
Max Magnitude0
ClinVar
Risk rs145665129(A;A)
Alt rs145665129(A;A)
Reference rs145665129(G;G)
Significance Pathogenic
Disease COACH syndrome Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN COACH syndrome Joubert syndrome 7
Reversed 0
HGVS NC_000016.9:g.53679807G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001134.3, RCV000201645.1,