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rs119465999

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs119465999(C;T)
Make rs119465999(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position69199289
GeneCIRH1A
is asnp
is mentioned by
dbSNPrs119465999
ebirs119465999
HLIrs119465999
Exacrs119465999
Varsomers119465999
Maprs119465999
PheGenIrs119465999
hapmaprs119465999
1000 genomesrs119465999
hgdprs119465999
ensemblrs119465999
gopubmedrs119465999
geneviewrs119465999
scholarrs119465999
googlers119465999
pharmgkbrs119465999
gwascentralrs119465999
openSNPrs119465999
23andMers119465999
23andMe allrs119465999
SNP Nexus

SNPshotrs119465999
SNPdbers119465999
MSV3drs119465999
GWAS Ctlgrs119465999
GMAF0.002296
Max Magnitude0

rs119465999, also known as c.1693C>T, p.Arg565Trp and R565W, is a SNP in the CIRH1A gene on chromosome 16.

Previously reported as pathogenic, however, frequency analysis and associated phenotypic data leads to the conclusion that this variant is highly likely to actually be benign.10.1101/030338

OMIM607456
Desc
Variant0001
Relatedalso
ClinVar
Risk rs119465999(A,T;A,T)
Alt rs119465999(A,T;A,T)
Reference rs119465999(C;C)
Significance Pathogenic
Disease North american indian childhood cirrhosis
Variation info
Gene CIRH1A UTP4
CLNDBN North american indian childhood cirrhosis
Reversed 0
HGVS NC_000016.9:g.69199289C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003345.5,