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rs121918200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918200(C;C)
Make rs121918200(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position53652604
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918200
ebirs121918200
HLIrs121918200
Exacrs121918200
Varsomers121918200
Maprs121918200
PheGenIrs121918200
hapmaprs121918200
1000 genomesrs121918200
hgdprs121918200
ensemblrs121918200
gopubmedrs121918200
geneviewrs121918200
scholarrs121918200
googlers121918200
pharmgkbrs121918200
gwascentralrs121918200
openSNPrs121918200
23andMers121918200
23andMe allrs121918200
SNP Nexus

SNPshotrs121918200
SNPdbers121918200
MSV3drs121918200
GWAS Ctlgrs121918200
Max Magnitude0
OMIM610937
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918200(A,C;A,C)
Alt rs121918200(A,C;A,C)
Reference rs121918200(G;G)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53686516C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001126.2,