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rs72554665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 5 G6PD deficiency
(C;G) 3 Carrier of G6PD deficiency mutation; variable expressivity
(G;G) 0 common in clinvar
(G;T) 3 Carrier of G6PD deficiency mutation; variable expressivity
(T;T) 5 G6PD deficiency
ReferenceGRCh38 38.1/142
ChromosomeX
Position154532269
GeneG6PD
is asnp
is mentioned by
dbSNPrs72554665
dbSNP (old)rs72554665
ClinGenrs72554665
ebirs72554665
HLIrs72554665
Exacrs72554665
Gnomadrs72554665
Varsomers72554665
Maprs72554665
PheGenIrs72554665
Biobankrs72554665
1000 genomesrs72554665
hgdprs72554665
ensemblrs72554665
gopubmedrs72554665
geneviewrs72554665
scholarrs72554665
googlers72554665
pharmgkbrs72554665
gwascentralrs72554665
openSNPrs72554665
23andMers72554665
23andMe allrs72554665
SNP Nexus

SNPshotrs72554665
SNPdbers72554665
MSV3drs72554665
GWAS Ctlgrs72554665
GMAF0.0006046
Max Magnitude5
23andMe name (for the G>T variant): i5012739
OMIM305900
Desc
Variant0021
Relatedalso
OMIM305900
Desc
Variant0059
Relatedalso
ClinVar
Risk rs72554665(A;A) Rs72554665(C;C) Rs72554665(T;T)
Alt rs72554665(A;A) Rs72554665(C;C) Rs72554665(T;T)
Reference Rs72554665(G;G)
Significance Other
Disease G6PD CANTON G6PD GIFU G6PD AGRIGENTO G6PD TAIWAN-HAKKA not provided Anemia Glucose 6 phosphate dehydrogenase deficiency G6PD COSENZA
Variation info
Gene G6PD
CLNDBN G6PD CANTON G6PD GIFU G6PD AGRIGENTO G6PD TAIWAN-HAKKA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency Glucose 6 phosphate dehydrogenase deficiency G6PD COSENZA
Reversed 1
HGVS NC_000023.10:g.153760484C>A; NC_000023.10:g.153760484C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011104.7, RCV000011105.7, RCV000011106.7, RCV000011107.7, RCV000079398.3, RCV000174272.2, RCV000375428.1, RCV000011167.2, RCV000354491.1,