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rs121918186

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918186(C;T)
Make rs121918186(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position45295673
GeneUPK3A
is asnp
is mentioned by
dbSNPrs121918186
ebirs121918186
HLIrs121918186
Exacrs121918186
Varsomers121918186
Maprs121918186
PheGenIrs121918186
hapmaprs121918186
1000 genomesrs121918186
hgdprs121918186
ensemblrs121918186
gopubmedrs121918186
geneviewrs121918186
scholarrs121918186
googlers121918186
pharmgkbrs121918186
gwascentralrs121918186
openSNPrs121918186
23andMers121918186
23andMe allrs121918186
SNP Nexus

SNPshotrs121918186
SNPdbers121918186
MSV3drs121918186
GWAS Ctlgrs121918186
GMAF0.0004591
Max Magnitude0
OMIM611559
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918186(T;T)
Alt rs121918186(T;T)
Reference rs121918186(C;C)
Significance Pathogenic
Disease Congenital anomalies of kidney and urinary tract 1
Variation info
Gene UPK3A
CLNDBN Congenital anomalies of kidney and urinary tract 1, susceptibility to
Reversed 0
HGVS NC_000022.10:g.45691554C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000921.4,