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rs121918202

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918202(C;T)
Make rs121918202(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53671580
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918202
ebirs121918202
HLIrs121918202
Exacrs121918202
Varsomers121918202
Maprs121918202
PheGenIrs121918202
hapmaprs121918202
1000 genomesrs121918202
hgdprs121918202
ensemblrs121918202
gopubmedrs121918202
geneviewrs121918202
scholarrs121918202
googlers121918202
pharmgkbrs121918202
gwascentralrs121918202
openSNPrs121918202
23andMers121918202
23andMe allrs121918202
SNP Nexus

SNPshotrs121918202
SNPdbers121918202
MSV3drs121918202
GWAS Ctlgrs121918202
Max Magnitude0
OMIM610937
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121918202(T;T)
Alt rs121918202(T;T)
Reference rs121918202(C;C)
Significance Pathogenic
Disease Meckel syndrome type 5
Variation info
Gene RPGRIP1L
CLNDBN Meckel syndrome type 5
Reversed 1
HGVS NC_000016.9:g.53705492G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001128.2,