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rs121918203

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918203(C;T)
Make rs121918203(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53645694
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918203
ebirs121918203
HLIrs121918203
Exacrs121918203
Varsomers121918203
Maprs121918203
PheGenIrs121918203
hapmaprs121918203
1000 genomesrs121918203
hgdprs121918203
ensemblrs121918203
gopubmedrs121918203
geneviewrs121918203
scholarrs121918203
googlers121918203
pharmgkbrs121918203
gwascentralrs121918203
openSNPrs121918203
23andMers121918203
23andMe allrs121918203
SNP Nexus

SNPshotrs121918203
SNPdbers121918203
MSV3drs121918203
GWAS Ctlgrs121918203
Max Magnitude0
OMIM610937
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918203(T;T)
Alt rs121918203(T;T)
Reference rs121918203(C;C)
Significance Pathogenic
Disease Meckel syndrome type 5 not provided Joubert syndrome 7
Variation info
Gene RPGRIP1L
CLNDBN Meckel syndrome type 5 not provided Joubert syndrome 7
Reversed 1
HGVS NC_000016.9:g.53679606G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000033207.4, RCV000081724.3, RCV000175207.1,