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rs137852318

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
Position154533596
GeneG6PD
is asnp
is mentioned by
dbSNPrs137852318
ClinGenrs137852318
ebirs137852318
HLIrs137852318
Exacrs137852318
Varsomers137852318
Maprs137852318
PheGenIrs137852318
hapmaprs137852318
1000 genomesrs137852318
hgdprs137852318
ensemblrs137852318
gopubmedrs137852318
geneviewrs137852318
scholarrs137852318
googlers137852318
pharmgkbrs137852318
gwascentralrs137852318
openSNPrs137852318
23andMers137852318
23andMe allrs137852318
SNP Nexus

SNPshotrs137852318
SNPdbers137852318
MSV3drs137852318
GWAS Ctlgrs137852318
Max Magnitude5

cDNA minor allele (C on the reverse strand) should be reclassified as benign according to {{PMID|26990548|OA=1}, apparently based on overly high "frequency in the general population", without any specific evidence cited. However, at least in one large population database (ExAC), the frequency of this minor allele appears to be very low (0.00084, based on 73 alleles observed in ~87,000 sequenced). Overall, while the minor allele may lead to a mild phenotype, for the moment it continues to be reported in ClinVar and here as a pathogenic variant.

23andMe name (for the C>A variant): i6010520

OMIM305900
Desc
Variant0010
Relatedalso
ClinVar
Risk rs137852318(A;A) Rs137852318(C;C)
Alt rs137852318(A;A) Rs137852318(C;C)
Reference Rs137852318(G;G)
Significance Other
Disease G6PD SEATTLE-LIKE G6PD MODENA not provided Anemia
Variation info
Gene G6PD
CLNDBN G6PD SEATTLE-LIKE G6PD MODENA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Reversed 1
HGVS NC_000023.10:g.153761811C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000011092.3, RCV000011093.3, RCV000079413.3, RCV000180200.2,