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rs786204021

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204021(C;T)
Make rs786204021(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11794853
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204021
dbSNP (classic)rs786204021
ClinGenrs786204021
ebirs786204021
HLIrs786204021
Exacrs786204021
Gnomadrs786204021
Varsomers786204021
LitVarrs786204021
Maprs786204021
PheGenIrs786204021
Biobankrs786204021
1000 genomesrs786204021
hgdprs786204021
ensemblrs786204021
geneviewrs786204021
scholarrs786204021
googlers786204021
pharmgkbrs786204021
gwascentralrs786204021
openSNPrs786204021
23andMers786204021
SNPshotrs786204021
SNPdbers786204021
MSV3drs786204021
GWAS Ctlgrs786204021
Max Magnitude0
ClinVar
Risk rs786204021(T;T)
Alt rs786204021(T;T)
Reference Rs786204021(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.11854910G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000167607.1,