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rs786204023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204023(A;A)
Make rs786204023(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11794807
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204023
dbSNP (classic)rs786204023
ClinGenrs786204023
ebirs786204023
HLIrs786204023
Exacrs786204023
Gnomadrs786204023
Varsomers786204023
LitVarrs786204023
Maprs786204023
PheGenIrs786204023
Biobankrs786204023
1000 genomesrs786204023
hgdprs786204023
ensemblrs786204023
geneviewrs786204023
scholarrs786204023
googlers786204023
pharmgkbrs786204023
gwascentralrs786204023
openSNPrs786204023
23andMers786204023
SNPshotrs786204023
SNPdbers786204023
MSV3drs786204023
GWAS Ctlgrs786204023
Max Magnitude0
ClinVar
Risk rs786204023(A;A)
Alt rs786204023(A;A)
Reference Rs786204023(G;G)
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.11854864C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000167609.1,