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rs10250779

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) normal
(G;G) 0 common in clinvar
(T;T) 2 possible exercise-inducing cramping in African-Americans
ReferenceGRCh38 38.1/142
Chromosome7
Position44065297
GeneBOLA3-AS1, PGAM2
is asnp
is mentioned by
dbSNPrs10250779
ebirs10250779
HLIrs10250779
Exacrs10250779
Varsomers10250779
Maprs10250779
PheGenIrs10250779
hapmaprs10250779
1000 genomesrs10250779
hgdprs10250779
ensemblrs10250779
gopubmedrs10250779
geneviewrs10250779
scholarrs10250779
googlers10250779
pharmgkbrs10250779
gwascentralrs10250779
openSNPrs10250779
23andMers10250779
23andMe allrs10250779
SNP Nexus

SNPshotrs10250779
SNPdbers10250779
MSV3drs10250779
GWAS Ctlgrs10250779
GMAF0.001837
Max Magnitude2
? (C;C) (C;T) (T;T) 28
Several African-American rs10250779(T;T) homozygotes (as oriented in dbSNP) have been reported to experience intense muscle pain and cramps upon exercising. It is not known what percentage of such homozgyotes respond to exercise in this manner.[PMID 8447317OA-icon.png]
OMIM261670
DescMYOPATHY DUE TO DEFICIENCY OF MUSCLE PHOSPHOGLYCERATE MUTASE
Variant0001
Relatedalso
OMIM612931
Desc
Variant0001
Relatedalso


ClinVar
Risk rs10250779(A,C;A,C)
Alt rs10250779(A,C;A,C)
Reference rs10250779(G;G)
Significance Pathogenic
Disease Glycogen storage disease type X
Variation info
Gene PGAM2
CLNDBN Glycogen storage disease type X
Reversed 1
HGVS NC_000007.13:g.44104896C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000446.2,



[PMID 18852891OA-icon.png] Distribution and effects of nonsense polymorphisms in human genes.