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rs786204017

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204017(C;T)
Make rs786204017(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11796226
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204017
dbSNP (classic)rs786204017
ClinGenrs786204017
ebirs786204017
HLIrs786204017
Exacrs786204017
Gnomadrs786204017
Varsomers786204017
LitVarrs786204017
Maprs786204017
PheGenIrs786204017
Biobankrs786204017
1000 genomesrs786204017
hgdprs786204017
ensemblrs786204017
geneviewrs786204017
scholarrs786204017
googlers786204017
pharmgkbrs786204017
gwascentralrs786204017
openSNPrs786204017
23andMers786204017
SNPshotrs786204017
SNPdbers786204017
MSV3drs786204017
GWAS Ctlgrs786204017
Max Magnitude0
ClinVar
Risk rs786204017(T;T)
Alt rs786204017(T;T)
Reference Rs786204017(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.11856283G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000167601.1,