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rs74349352

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74349352(A;A)
Make rs74349352(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position45015501
GeneUROD
is asnp
is mentioned by
dbSNPrs74349352
dbSNP (classic)rs74349352
ClinGenrs74349352
ebirs74349352
HLIrs74349352
Exacrs74349352
Gnomadrs74349352
Varsomers74349352
LitVarrs74349352
Maprs74349352
PheGenIrs74349352
Biobankrs74349352
1000 genomesrs74349352
hgdprs74349352
ensemblrs74349352
geneviewrs74349352
scholarrs74349352
googlers74349352
pharmgkbrs74349352
gwascentralrs74349352
openSNPrs74349352
23andMers74349352
SNPshotrs74349352
SNPdbers74349352
MSV3drs74349352
GWAS Ctlgrs74349352
Max Magnitude0

[PMID 27569544OA-icon.png] A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.

ClinVar
Risk rs74349352(A;A)
Alt rs74349352(A;A)
Reference Rs74349352(G;G)
Significance Probable-non-pathogenic
Disease not specified Porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN not specified Porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45481173G>A
CLNSRC Illumina
CLNACC RCV000242058.1, RCV000385567.1,