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rs121913223

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913223(A;T)
Make rs121913223(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position80633904
GeneDHFR
is asnp
is mentioned by
dbSNPrs121913223
ebirs121913223
HLIrs121913223
Exacrs121913223
Varsomers121913223
Maprs121913223
PheGenIrs121913223
hapmaprs121913223
1000 genomesrs121913223
hgdprs121913223
ensemblrs121913223
gopubmedrs121913223
geneviewrs121913223
scholarrs121913223
googlers121913223
pharmgkbrs121913223
gwascentralrs121913223
openSNPrs121913223
23andMers121913223
23andMe allrs121913223
SNP Nexus

SNPshotrs121913223
SNPdbers121913223
MSV3drs121913223
GWAS Ctlgrs121913223
Max Magnitude0
ClinVar
Risk rs121913223(T;T)
Alt rs121913223(T;T)
Reference rs121913223(A;A)
Significance Pathogenic
Disease Megaloblastic anemia due to dihydrofolate reductase deficiency
Variation info
Gene DHFR
CLNDBN Megaloblastic anemia due to dihydrofolate reductase deficiency
Reversed 1
HGVS NC_000005.9:g.79929723T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022525.25,


[PMID 1060915] Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.


[PMID 1099447] Inborn errors of folate metabolism (first of two parts).


[PMID 6700662] Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency.

OMIM126060
Desc
Variant
Relatedalso