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rs786204014

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204014(A;A)
Make rs786204014(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11796399
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204014
dbSNP (classic)rs786204014
ClinGenrs786204014
ebirs786204014
HLIrs786204014
Exacrs786204014
Gnomadrs786204014
Varsomers786204014
LitVarrs786204014
Maprs786204014
PheGenIrs786204014
Biobankrs786204014
1000 genomesrs786204014
hgdprs786204014
ensemblrs786204014
geneviewrs786204014
scholarrs786204014
googlers786204014
pharmgkbrs786204014
gwascentralrs786204014
openSNPrs786204014
23andMers786204014
SNPshotrs786204014
SNPdbers786204014
MSV3drs786204014
GWAS Ctlgrs786204014
Max Magnitude0
ClinVar
Risk rs786204014(A;A)
Alt rs786204014(A;A)
Reference Rs786204014(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.11856456C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000167597.1,