rs267606836

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs267606836(C;T)

Make rs267606836(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

154534438

Gene

G6PD

is a	snp
is	mentioned by
dbSNP	rs267606836
dbSNP (classic)	rs267606836
ClinGen	rs267606836
ebi	rs267606836
HLI	rs267606836
Exac	rs267606836
Gnomad	rs267606836
Varsome	rs267606836
LitVar	rs267606836
Map	rs267606836
PheGenI	rs267606836
Biobank	rs267606836
1000 genomes	rs267606836
hgdp	rs267606836
ensembl	rs267606836
geneview	rs267606836
scholar	rs267606836
google	rs267606836
pharmgkb	rs267606836
gwascentral	rs267606836
openSNP	rs267606836
23andMe	rs267606836
SNPshot	rs267606836
SNPdbe	rs267606836
MSV3d	rs267606836
GWAS Ctlg	rs267606836

Max Magnitude

0

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,