H6PD

hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase

Summary

There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

Known Variants193 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184437520	1:9,295,155	C/T	regulatory region variant	—
rs556189727	1:9,303,926	C/T	—	—
rs138547645	1:9,305,024	T/G	—	likely benign
rs1444732814	1:9,305,073	C/T	—	uncertain significance
rs771086344	1:9,305,120	T/C	—	uncertain significance
rs116196265	1:9,305,179	C/T	—	benign
rs1165969718	1:9,305,202	C/T	—	uncertain significance
rs906651065	1:9,305,210	G/C	—	uncertain significance
rs138775586	1:9,305,248	C/T	—	benign
rs2521791972	1:9,305,295	A/C	—	uncertain significance
rs148725451	1:9,305,309	A/G	—	conflicting classifications of pathogenicity
rs752399331	1:9,305,319	G/A	—	uncertain significance
rs138024142	1:9,305,335	C/T	—	benign
rs543287988	1:9,305,336	G/A	—	uncertain significance
rs192845481	1:9,305,360	G/T	—	uncertain significance
rs748393854	1:9,305,363	A/G	—	uncertain significance
rs139416629	1:9,305,393	C/T	—	benign
rs756303135	1:9,305,408	A/G	—	uncertain significance
rs144456985	1:9,305,415	A/G	—	uncertain significance
rs34603401	1:9,305,445	C/A	—	benign
rs895202163	1:9,305,509	T/C	—	likely benign
rs763474728	1:9,305,511	A/G	—	uncertain significance
rs146976758	1:9,305,532	A/G	—	likely benign
rs371552057	1:9,307,016	C/A	—	likely benign
rs4601607	1:9,307,017	C/G	—	benign
rs199892963	1:9,307,018	C/T	—	likely benign
rs143104068	1:9,307,032	C/T	—	conflicting classifications of pathogenicity
rs7524046	1:9,307,033	G/A	—	benign
rs774520385	1:9,307,049	C/T	—	pathogenic
rs35525021	1:9,307,050	G/A	—	likely benign
rs141948836	1:9,307,061	C/T	—	conflicting classifications of pathogenicity
rs36094664	1:9,307,075	C/T	—	benign
rs142080875	1:9,307,076	G/A	—	benign
rs35610691	1:9,307,089	G/A	—	likely benign
rs748198697	1:9,307,112	A/T	—	uncertain significance
rs2521814973	1:9,307,115	A/G	—	likely benign
rs118005430	1:9,307,129	C/T	—	likely benign
rs11121350	1:9,307,138	T/C	—	benign
rs368172161	1:9,307,161	G/A	—	benign
rs12032814	1:9,307,230	T/A	intron variant	likely benign
rs142259111	1:9,317,487	C/T	—	uncertain significance
rs6662509	1:9,317,604	C/T	intron variant	—
rs148558413	1:9,322,120	C/T	—	uncertain significance
rs140374763	1:9,322,121	G/A	—	uncertain significance
rs967443477	1:9,322,123	A/G	—	uncertain significance
rs116403427	1:9,322,143	C/T	—	benign
rs201740669	1:9,322,153	C/T	—	uncertain significance
rs149778702	1:9,322,155	T/C	—	benign
rs180972425	1:9,322,158	C/T	—	likely benign
rs767129218	1:9,322,159	G/A	—	uncertain significance
rs145706807	1:9,322,194	C/T	—	likely benign
rs575597887	1:9,322,243	C/T	—	uncertain significance
rs138786229	1:9,322,268	C/T	—	uncertain significance
rs150901527	1:9,322,273	C/T	—	uncertain significance
rs149621074	1:9,322,274	G/A	—	uncertain significance
rs2521947830	1:9,322,278	C/T	—	likely benign
rs779314975	1:9,322,285	A/G	—	uncertain significance
rs771783790	1:9,322,288	G/A	—	uncertain significance
rs139444060	1:9,322,296	C/T	—	likely benign
rs61745592	1:9,322,299	C/T	—	benign
rs377054941	1:9,322,300	G/A	—	uncertain significance
rs1557749274	1:9,322,307	A/G	—	uncertain significance
rs398122817	1:9,322,320	C/G	stop gained	pathogenic
rs398122816	1:9,322,332	G/A	synonymous variant	pathogenic
rs375504656	1:9,322,333	C/T	—	likely benign
rs138833705	1:9,322,373	C/T	—	uncertain significance
rs140631516	1:9,322,376	C/T	—	likely benign
rs76029483	1:9,322,383	C/T	—	benign
rs745820805	1:9,322,384	G/A	—	uncertain significance
rs775281607	1:9,322,394	C/T	—	likely benign
rs140374783	1:9,323,549	T/C	—	benign
rs142773575	1:9,323,570	G/A	—	likely benign
rs756870094	1:9,323,591	C/T	—	uncertain significance
rs149463138	1:9,323,595	G/A	—	uncertain significance
rs34448374	1:9,323,605	C/T	—	likely benign
rs199782560	1:9,323,606	G/A	—	uncertain significance
rs367704323	1:9,323,626	T/C	—	likely benign
rs387907167	1:9,323,628	G/A	missense variant	pathogenic
rs146809075	1:9,323,642	G/A	—	uncertain significance
rs201145062	1:9,323,657	G/A	—	uncertain significance
rs182877860	1:9,323,661	G/A	—	uncertain significance
rs367995382	1:9,323,671	C/T	—	likely benign
rs1019398484	1:9,323,675	A/G	—	uncertain significance
rs768856168	1:9,323,699	G/A	—	uncertain significance
rs115109857	1:9,323,713	C/T	—	likely benign
rs149231638	1:9,323,715	C/T	—	likely benign
rs139280233	1:9,323,716	G/A	—	benign
rs759086163	1:9,323,718	C/T	—	uncertain significance
rs199663762	1:9,323,719	G/A	—	likely benign
rs751338036	1:9,323,735	C/T	—	uncertain significance
rs35511555	1:9,323,739	G/A	—	likely benign
rs112859991	1:9,323,746	C/T	—	likely benign
rs369125646	1:9,323,747	G/A	—	conflicting classifications of pathogenicity
rs1414563862	1:9,323,754	A/G	—	uncertain significance
rs377461550	1:9,323,759	G/A	—	uncertain significance
rs1475306702	1:9,323,779	C/T	—	likely benign
rs139332011	1:9,323,785	C/T	—	likely benign
rs201017402	1:9,323,786	G/A	—	uncertain significance
rs779056308	1:9,323,800	G/C	—	uncertain significance
rs748119651	1:9,323,801	A/C	—	uncertain significance

Showing 100 of 193 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.