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rs1800457

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1800457(C;G)
Make rs1800457(G;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position42628265
GeneCYB5R3
is asnp
is mentioned by
dbSNPrs1800457
ebirs1800457
HLIrs1800457
Exacrs1800457
Varsomers1800457
Maprs1800457
PheGenIrs1800457
hapmaprs1800457
1000 genomesrs1800457
hgdprs1800457
ensemblrs1800457
gopubmedrs1800457
geneviewrs1800457
scholarrs1800457
googlers1800457
pharmgkbrs1800457
gwascentralrs1800457
openSNPrs1800457
23andMers1800457
23andMe allrs1800457
SNP Nexus

SNPshotrs1800457
SNPdbers1800457
MSV3drs1800457
GWAS Ctlgrs1800457
GMAF0.07208
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM613213
Desc
Variant0011
Relatedalso


ClinVar
Risk rs1800457(G,T;G,T)
Alt rs1800457(G,T;G,T)
Reference rs1800457(C;C)
Significance Non-pathogenic
Disease NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM
Variation info
Gene CYB5R3
CLNDBN NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM
Reversed 1
HGVS NC_000022.10:g.43024271G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000268.2,



GET Evidence
CYB5R3-T117S
aa_change Thr117Ser
aa_change_short T117S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0932329
summary