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rs786204028

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204028(G;T)
Make rs786204028(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11792304
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204028
ebirs786204028
HLIrs786204028
Exacrs786204028
Varsomers786204028
Maprs786204028
PheGenIrs786204028
hapmaprs786204028
1000 genomesrs786204028
hgdprs786204028
ensemblrs786204028
gopubmedrs786204028
geneviewrs786204028
scholarrs786204028
googlers786204028
pharmgkbrs786204028
gwascentralrs786204028
openSNPrs786204028
23andMers786204028
23andMe allrs786204028
SNP Nexus

SNPshotrs786204028
SNPdbers786204028
MSV3drs786204028
GWAS Ctlgrs786204028
Max Magnitude0
ClinVar
Risk rs786204028(A,T;A,T)
Alt rs786204028(A,T;A,T)
Reference rs786204028(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.11852361C>A; NC_000001.10:g.11852361C>T
CLNSRC
CLNACC RCV000167616.1, RCV000190390.1,