Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918198

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918198(A;C)
Make rs121918198(C;C)
ReferenceGRCh38 38.1/141
Chromosome16
Position53652844
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918198
ebirs121918198
HLIrs121918198
Exacrs121918198
Varsomers121918198
Maprs121918198
PheGenIrs121918198
hapmaprs121918198
1000 genomesrs121918198
hgdprs121918198
ensemblrs121918198
gopubmedrs121918198
geneviewrs121918198
scholarrs121918198
googlers121918198
pharmgkbrs121918198
gwascentralrs121918198
openSNPrs121918198
23andMers121918198
23andMe allrs121918198
SNP Nexus

SNPshotrs121918198
SNPdbers121918198
MSV3drs121918198
GWAS Ctlgrs121918198
Max Magnitude0
OMIM610937
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918198(C;C)
Alt rs121918198(C;C)
Reference rs121918198(A;A)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53686756T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001124.4,