Have questions? Visit https://www.reddit.com/r/SNPedia

rs267606836

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606836(C;T)
Make rs267606836(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154534438
GeneG6PD
is asnp
is mentioned by
dbSNPrs267606836
dbSNP (old)rs267606836
ClinGenrs267606836
ebirs267606836
HLIrs267606836
Exacrs267606836
Gnomadrs267606836
Varsomers267606836
Maprs267606836
PheGenIrs267606836
Biobankrs267606836
1000 genomesrs267606836
hgdprs267606836
ensemblrs267606836
gopubmedrs267606836
geneviewrs267606836
scholarrs267606836
googlers267606836
pharmgkbrs267606836
gwascentralrs267606836
openSNPrs267606836
23andMers267606836
23andMe allrs267606836
SNP Nexus

SNPshotrs267606836
SNPdbers267606836
MSV3drs267606836
GWAS Ctlgrs267606836
Max Magnitude0

rs267606836, also known as c.634C>T, p.Arg212Trp and R212W, is a variant in the G6PD gene, located on the X chromosome.

This variant has been described as one of three variants defining a unique null G6PD allele in a patient with chronic granuloma and hemolytic anemia. The three changes defining this allele were c.317C>G, c.544C>T, and c.592C>T, leading to protein changes Ser106Cys, Arg182Trp and Arg198Cys; the corresponding SNPs are rs267606835, rs267606836 and rs137852330, respectively.

It is not known if the minor alleles of rs267606835 or rs267606836 would be pathogenic on their own (in the absence of these other changes); rs137852330 has been reported as associated with a form of favism.



ClinVar
Risk rs267606836(T;T)
Alt rs267606836(T;T)
Reference Rs267606836(C;C)
Significance Pathogenic
Disease Chronic granuloma and hemolytic anemia
Variation info
Gene G6PD
CLNDBN Chronic granuloma and hemolytic anemia
Reversed 1
HGVS NC_000023.10:g.153762653G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011127.4,