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rs5030868

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;C) 0
(C;-) 0
(C;C) 0 common in clinvar
(C;T) 3 G6PD Heterozygous
(T;T) 6 Homozygous/Hemizygous mutant
ReferenceGRCh38 38.1/142
ChromosomeX
Position154534419
GeneG6PD
is asnp
is mentioned by
dbSNPrs5030868
ebirs5030868
HLIrs5030868
Exacrs5030868
Varsomers5030868
Maprs5030868
PheGenIrs5030868
hapmaprs5030868
1000 genomesrs5030868
hgdprs5030868
ensemblrs5030868
gopubmedrs5030868
geneviewrs5030868
scholarrs5030868
googlers5030868
pharmgkbrs5030868
gwascentralrs5030868
openSNPrs5030868
23andMers5030868
23andMe allrs5030868
SNP Nexus

SNPshotrs5030868
SNPdbers5030868
MSV3drs5030868
GWAS Ctlgrs5030868
Max Magnitude6
OMIM305900
Desc
Variant0006
Relatedalso


ClinVar
Risk rs5030868(T;T)
Alt rs5030868(T;T)
Reference rs5030868(C;C)
Significance Other
Disease G6PD MEDITERRANEAN G6PD SASSARI G6PD CAGLIARI not provided Anemia
Variation info
Gene G6PD
CLNDBN G6PD MEDITERRANEAN G6PD SASSARI G6PD CAGLIARI not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153762634G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011086.2, RCV000011087.2, RCV000011088.2, RCV000079409.3, RCV000179363.3,



rs5030868, also known as c.653C>T, p.Ser218Phe and S218F, is a SNP located on the X-Chromosome and associated with moderate to severe Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency. Often referred to as the “Mediterranean variant”, the 563C->T mutation encodes a non-synonymous Serine to Phenylalanine substitution at Amino Acid position 188 (S188F) resulting in reduced catalytic efficiency and stability G6PD [PMID 3393536OA-icon.png]. In red blood cells, G6PD acts as the primary electron source for reactions that neutralize reactive oxygen species; thus the red blood cells of G6PD deficient individuals are especially susceptible to damage from oxidative stress [PMID 18177777]. The Mediterranean variant of G6PD has been associated with acute hemolytic anemia induced by the ingestion of fava beans, glibenclamide, primaquine, dapsone, and Aspirin among others. [PMID 8562390] [PMID 2502894][PMID 14945981][PMID 19112496OA-icon.png]

Hemizygous males and homozygous females exhibit moderate to severe symptoms of G6PD deficiency, while heterozygous females may exhibit symptoms to varying degrees due to random inactivation of X-Chromosomes. This Mediterranean variant is primarily found in individuals with Mediterranean or Middle Eastern ancestry. It is suspected to be protective against malaria and to have been under positive selection in the past [PMID 86896].

See also OMIM 305900.0006