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rs121918197

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918197(A;T)
Make rs121918197(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53686512
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918197
ebirs121918197
HLIrs121918197
Exacrs121918197
Varsomers121918197
Maprs121918197
PheGenIrs121918197
hapmaprs121918197
1000 genomesrs121918197
hgdprs121918197
ensemblrs121918197
gopubmedrs121918197
geneviewrs121918197
scholarrs121918197
googlers121918197
pharmgkbrs121918197
gwascentralrs121918197
openSNPrs121918197
23andMers121918197
23andMe allrs121918197
SNP Nexus

SNPshotrs121918197
SNPdbers121918197
MSV3drs121918197
GWAS Ctlgrs121918197
GMAF0.0004591
Max Magnitude0
OMIM610937
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918197(C,T;C,T)
Alt rs121918197(C,T;C,T)
Reference rs121918197(A;A)
Significance Pathogenic
Disease Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53720424T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001123.2,