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rs786204007

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204007(C;C)
Make rs786204007(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11802941
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204007
dbSNP (classic)rs786204007
ClinGenrs786204007
ebirs786204007
HLIrs786204007
Exacrs786204007
Gnomadrs786204007
Varsomers786204007
LitVarrs786204007
Maprs786204007
PheGenIrs786204007
Biobankrs786204007
1000 genomesrs786204007
hgdprs786204007
ensemblrs786204007
geneviewrs786204007
scholarrs786204007
googlers786204007
pharmgkbrs786204007
gwascentralrs786204007
openSNPrs786204007
23andMers786204007
SNPshotrs786204007
SNPdbers786204007
MSV3drs786204007
GWAS Ctlgrs786204007
Max Magnitude0
ClinVar
Risk rs786204007(C;C)
Alt rs786204007(C;C)
Reference Rs786204007(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.11862998C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000167588.1,