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rs786204009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204009(C;T)
Make rs786204009(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11801392
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204009
dbSNP (classic)rs786204009
ClinGenrs786204009
ebirs786204009
HLIrs786204009
Exacrs786204009
Gnomadrs786204009
Varsomers786204009
LitVarrs786204009
Maprs786204009
PheGenIrs786204009
Biobankrs786204009
1000 genomesrs786204009
hgdprs786204009
ensemblrs786204009
geneviewrs786204009
scholarrs786204009
googlers786204009
pharmgkbrs786204009
gwascentralrs786204009
openSNPrs786204009
23andMers786204009
SNPshotrs786204009
SNPdbers786204009
MSV3drs786204009
GWAS Ctlgrs786204009
Max Magnitude0
ClinVar
Risk rs786204009(T;T)
Alt rs786204009(T;T)
Reference Rs786204009(C;C)
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.11861449G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000167590.1,