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rs786204030

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204030(A;A)
Make rs786204030(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11791276
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204030
dbSNP (classic)rs786204030
ClinGenrs786204030
ebirs786204030
HLIrs786204030
Exacrs786204030
Gnomadrs786204030
Varsomers786204030
LitVarrs786204030
Maprs786204030
PheGenIrs786204030
Biobankrs786204030
1000 genomesrs786204030
hgdprs786204030
ensemblrs786204030
geneviewrs786204030
scholarrs786204030
googlers786204030
pharmgkbrs786204030
gwascentralrs786204030
openSNPrs786204030
23andMers786204030
SNPshotrs786204030
SNPdbers786204030
MSV3drs786204030
GWAS Ctlgrs786204030
Max Magnitude0
ClinVar
Risk rs786204030(A;A)
Alt rs786204030(A;A)
Reference Rs786204030(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.11851333C>T
CLNSRC
CLNACC RCV000167618.1,