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rs786204034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204034(C;C)
Make rs786204034(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11790858
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204034
dbSNP (classic)rs786204034
ClinGenrs786204034
ebirs786204034
HLIrs786204034
Exacrs786204034
Gnomadrs786204034
Varsomers786204034
LitVarrs786204034
Maprs786204034
PheGenIrs786204034
Biobankrs786204034
1000 genomesrs786204034
hgdprs786204034
ensemblrs786204034
geneviewrs786204034
scholarrs786204034
googlers786204034
pharmgkbrs786204034
gwascentralrs786204034
openSNPrs786204034
23andMers786204034
SNPshotrs786204034
SNPdbers786204034
MSV3drs786204034
GWAS Ctlgrs786204034
Max Magnitude0
ClinVar
Risk rs786204034(C;C)
Alt rs786204034(C;C)
Reference Rs786204034(T;T)
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.11850915A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000167622.1,