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rs145195562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145195562(C;C)
Make rs145195562(C;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position45014071
GeneUROD
is asnp
is mentioned by
dbSNPrs145195562
dbSNP (classic)rs145195562
ClinGenrs145195562
ebirs145195562
HLIrs145195562
Exacrs145195562
Gnomadrs145195562
Varsomers145195562
LitVarrs145195562
Maprs145195562
PheGenIrs145195562
Biobankrs145195562
1000 genomesrs145195562
hgdprs145195562
ensemblrs145195562
geneviewrs145195562
scholarrs145195562
googlers145195562
pharmgkbrs145195562
gwascentralrs145195562
openSNPrs145195562
23andMers145195562
SNPshotrs145195562
SNPdbers145195562
MSV3drs145195562
GWAS Ctlgrs145195562
Max Magnitude0
ClinVar
Risk rs145195562(C;C)
Alt rs145195562(C;C)
Reference Rs145195562(G;G)
Significance Pathogenic
Disease Familial porphyria cutanea tarda
Variation info
Gene UROD
CLNDBN Familial porphyria cutanea tarda
Reversed 0
HGVS NC_000001.10:g.45479743G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000085.4,