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rs1537514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1537514(C;G)
Make rs1537514(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position11788011
GeneC1orf167, MTHFR
is asnp
is mentioned by
dbSNPrs1537514
ClinGenrs1537514
ebirs1537514
HLIrs1537514
Exacrs1537514
Varsomers1537514
Maprs1537514
PheGenIrs1537514
Biobankrs1537514
1000 genomesrs1537514
hgdprs1537514
ensemblrs1537514
gopubmedrs1537514
geneviewrs1537514
scholarrs1537514
googlers1537514
pharmgkbrs1537514
gwascentralrs1537514
openSNPrs1537514
23andMers1537514
23andMe allrs1537514
SNP Nexus

SNPshotrs1537514
SNPdbers1537514
MSV3drs1537514
GWAS Ctlgrs1537514
GMAF0.08999
Max Magnitude0
? (C;C) (C;G) (G;G) 28
[PMID 21765920OA-icon.png] Bioinformatic and Genetic Association Analysis of MicroRNA Target Sites in One-Carbon Metabolism Genes


[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.


GET Evidence
C1ORF167-C572S
aa_change Cys572Ser
aa_change_short C572S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.046875
summary



ClinVar
Risk rs1537514(G;G)
Alt rs1537514(G;G)
Reference Rs1537514(C;C)
Significance Probable-non-pathogenic
Disease Neural tube defects
Variation info
Gene MTHFR C1orf167
CLNDBN Neural tube defects, folate-sensitive
Reversed 1
HGVS NC_000001.10:g.11848068G>C
CLNSRC
CLNACC RCV000354545.1,