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rs786204031

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204031(G;G)
Make rs786204031(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11791235
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204031
dbSNP (classic)rs786204031
ClinGenrs786204031
ebirs786204031
HLIrs786204031
Exacrs786204031
Gnomadrs786204031
Varsomers786204031
LitVarrs786204031
Maprs786204031
PheGenIrs786204031
Biobankrs786204031
1000 genomesrs786204031
hgdprs786204031
ensemblrs786204031
geneviewrs786204031
scholarrs786204031
googlers786204031
pharmgkbrs786204031
gwascentralrs786204031
openSNPrs786204031
23andMers786204031
SNPshotrs786204031
SNPdbers786204031
MSV3drs786204031
GWAS Ctlgrs786204031
Max Magnitude0
ClinVar
Risk rs786204031(G;G)
Alt rs786204031(G;G)
Reference Rs786204031(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.11851292A>C
CLNSRC UniProtKB (protein)
CLNACC RCV000167619.1,