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rs121918201

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918201(A;T)
Make rs121918201(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position53692201
GeneRPGRIP1L
is asnp
is mentioned by
dbSNPrs121918201
ebirs121918201
HLIrs121918201
Exacrs121918201
Varsomers121918201
Maprs121918201
PheGenIrs121918201
hapmaprs121918201
1000 genomesrs121918201
hgdprs121918201
ensemblrs121918201
gopubmedrs121918201
geneviewrs121918201
scholarrs121918201
googlers121918201
pharmgkbrs121918201
gwascentralrs121918201
openSNPrs121918201
23andMers121918201
23andMe allrs121918201
SNP Nexus

SNPshotrs121918201
SNPdbers121918201
MSV3drs121918201
GWAS Ctlgrs121918201
Max Magnitude0
OMIM610937
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918201(T;T)
Alt rs121918201(T;T)
Reference rs121918201(A;A)
Significance Pathogenic
Disease Meckel syndrome type 5
Variation info
Gene RPGRIP1L
CLNDBN Meckel syndrome type 5
Reversed 1
HGVS NC_000016.9:g.53726113T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001127.2,