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rs643788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs643788(C;C)
Make rs643788(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position119097048
GeneDPAGT1, H2AFX
is asnp
is mentioned by
dbSNPrs643788
ebirs643788
HLIrs643788
Exacrs643788
Varsomers643788
Maprs643788
PheGenIrs643788
hapmaprs643788
1000 genomesrs643788
hgdprs643788
ensemblrs643788
gopubmedrs643788
geneviewrs643788
scholarrs643788
googlers643788
pharmgkbrs643788
gwascentralrs643788
openSNPrs643788
23andMers643788
23andMe allrs643788
SNP Nexus

SNPshotrs643788
SNPdbers643788
MSV3drs643788
GWAS Ctlgrs643788
GMAF0.4302
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DPAGT1
allele C
frequency 0.467
sift TOLERATED
HuRef 1103649805114
Disease Association Defects in DPAGT1 are the cause of congenital disorder of glycosylation type Ij (CDG-Ij) (MIM:608093). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins and are caused by mutations in genes encoding proteins involved in the stepwise assembly of dolichol- oligosaccharide used for protein N-glycosylation.



[PMID 21512825] Possible association between genetic variants in the H2AFX promoter region and risk of adult glioma in a Chinese Han population


[PMID 17851762OA-icon.png] Genetic variants in the H2AFX promoter region are associated with risk of sporadic breast cancer in non-Hispanic white women aged <or=55 years.


[PMID 18638378OA-icon.png] Analysis of variants in DNA damage signalling genes in bladder cancer.


GET Evidence
DPAGT1-I393V
aa_change Ile393Val
aa_change_short I393V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.390128
summary



[PMID 24069324OA-icon.png] Sex- and Subtype-Specific Analysis of H2AFX Polymorphisms in Non-Hodgkin Lymphoma


ClinVar
Risk rs643788(C;C)
Alt rs643788(C;C)
Reference rs643788(T;T)
Significance Non-pathogenic
Disease not specified
Variation info
Gene H2AFX DPAGT1
CLNDBN not specified
Reversed 0
HGVS NC_000011.9:g.118967758T>C
CLNSRC ClinVar Emory University
CLNACC RCV000079665.5,