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rs1042391

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1042391(A;A)
Make rs1042391(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position16290530
GeneGMPR
is asnp
is mentioned by
dbSNPrs1042391
ebirs1042391
HLIrs1042391
Exacrs1042391
Varsomers1042391
Maprs1042391
PheGenIrs1042391
hapmaprs1042391
1000 genomesrs1042391
hgdprs1042391
ensemblrs1042391
gopubmedrs1042391
geneviewrs1042391
scholarrs1042391
googlers1042391
pharmgkbrs1042391
gwascentralrs1042391
openSNPrs1042391
23andMers1042391
23andMe allrs1042391
SNP Nexus

SNPshotrs1042391
SNPdbers1042391
MSV3drs1042391
GWAS Ctlgrs1042391
GMAF0.3549
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Identification of common variant alleles of the human guanosine monophosphate reductase gene. [PMID 1757097]
OMIM139265
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1042391(A;A)
Alt rs1042391(A;A)
Reference rs1042391(T;T)
Significance Non-pathogenic
Disease GMP REDUCTASE POLYMORPHISM
Variation info
Gene GMPR
CLNDBN GMP REDUCTASE POLYMORPHISM
Reversed 0
HGVS NC_000006.11:g.16290761T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017331.2,



GET Evidence
GMPR-F256I
aa_change Phe256Ile
aa_change_short F256I
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.541179
summary