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rs1801198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801198(C;C)
Make rs1801198(C;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position30615623
GeneTCN2
is asnp
is mentioned by
dbSNPrs1801198
ebirs1801198
HLIrs1801198
Exacrs1801198
Varsomers1801198
Maprs1801198
PheGenIrs1801198
hapmaprs1801198
1000 genomesrs1801198
hgdprs1801198
ensemblrs1801198
gopubmedrs1801198
geneviewrs1801198
scholarrs1801198
googlers1801198
pharmgkbrs1801198
gwascentralrs1801198
openSNPrs1801198
23andMers1801198
23andMe allrs1801198
SNP Nexus

SNPshotrs1801198
SNPdbers1801198
MSV3drs1801198
GWAS Ctlgrs1801198
GMAF0.4128
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM275350
DescTCN2 POLYMORPHISM
Variant0002
Relatedalso


Venter snp
Source plos
Gene TCN2
allele C
frequency 0.55
sift TOLERATED
HuRef 1103691028608
Disease Association Defects in TCN2 are the cause of transcobalamin II deficiency (MIM:275350). This results in various forms of anemia.



OMIM613441
Desc
Variant0002
Relatedalso


[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility


[PMID 22794911] A candidate gene study of one-carbon metabolism pathway genes and colorectal cancer risk


ClinVar
Risk rs1801198(C;C)
Alt rs1801198(C;C)
Reference rs1801198(G;G)
Significance Non-pathogenic
Disease TCN2 POLYMORPHISM
Variation info
Gene TCN2
CLNDBN TCN2 POLYMORPHISM
Reversed 0
HGVS NC_000022.10:g.31011610G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000117.2,



[PMID 17035141OA-icon.png] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

[PMID 17220211OA-icon.png] Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).

[PMID 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

[PMID 18661527OA-icon.png] Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.

[PMID 19936946OA-icon.png] Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.

[PMID 20111745OA-icon.png] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.

[PMID 21688148OA-icon.png] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.

[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.


GET Evidence
TCN2-R232P
aa_change Arg232Pro
aa_change_short R232P
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 23089108] Idiopathic pulmonary fibrosis and polymorphisms of the folate pathway genes


[PMID 26540672] Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway