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rs121918199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918199(C;T)
Make rs121918199(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53686452
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918199
ebirs121918199
HLIrs121918199
Exacrs121918199
Varsomers121918199
Maprs121918199
PheGenIrs121918199
hapmaprs121918199
1000 genomesrs121918199
hgdprs121918199
ensemblrs121918199
gopubmedrs121918199
geneviewrs121918199
scholarrs121918199
googlers121918199
pharmgkbrs121918199
gwascentralrs121918199
openSNPrs121918199
23andMers121918199
23andMe allrs121918199
SNP Nexus

SNPshotrs121918199
SNPdbers121918199
MSV3drs121918199
GWAS Ctlgrs121918199
Max Magnitude0
OMIM610937
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918199(T;T)
Alt rs121918199(T;T)
Reference rs121918199(C;C)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53720364G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001125.2,