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rs786204026

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204026(G;G)
Make rs786204026(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11793921
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204026
dbSNP (classic)rs786204026
ClinGenrs786204026
ebirs786204026
HLIrs786204026
Exacrs786204026
Gnomadrs786204026
Varsomers786204026
LitVarrs786204026
Maprs786204026
PheGenIrs786204026
Biobankrs786204026
1000 genomesrs786204026
hgdprs786204026
ensemblrs786204026
geneviewrs786204026
scholarrs786204026
googlers786204026
pharmgkbrs786204026
gwascentralrs786204026
openSNPrs786204026
23andMers786204026
SNPshotrs786204026
SNPdbers786204026
MSV3drs786204026
GWAS Ctlgrs786204026
Max Magnitude0
ClinVar
Risk rs786204026(G;G)
Alt rs786204026(G;G)
Reference Rs786204026(T;T)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 1
HGVS NC_000001.10:g.11853978A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000167614.1,