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rs121918204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918204(C;T)
Make rs121918204(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53652637
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918204
ebirs121918204
HLIrs121918204
Exacrs121918204
Varsomers121918204
Maprs121918204
PheGenIrs121918204
hapmaprs121918204
1000 genomesrs121918204
hgdprs121918204
ensemblrs121918204
gopubmedrs121918204
geneviewrs121918204
scholarrs121918204
googlers121918204
pharmgkbrs121918204
gwascentralrs121918204
openSNPrs121918204
23andMers121918204
23andMe allrs121918204
SNP Nexus

SNPshotrs121918204
SNPdbers121918204
MSV3drs121918204
GWAS Ctlgrs121918204
Max Magnitude0
OMIM610937
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121918204(T;T)
Alt rs121918204(T;T)
Reference rs121918204(C;C)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53686549G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001131.3,