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rs758206023

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs758206023(C;C)
Make rs758206023(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11790843
GeneMTHFR
is asnp
is mentioned by
dbSNPrs758206023
dbSNP (classic)rs758206023
ClinGenrs758206023
ebirs758206023
HLIrs758206023
Exacrs758206023
Gnomadrs758206023
Varsomers758206023
LitVarrs758206023
Maprs758206023
PheGenIrs758206023
Biobankrs758206023
1000 genomesrs758206023
hgdprs758206023
ensemblrs758206023
geneviewrs758206023
scholarrs758206023
googlers758206023
pharmgkbrs758206023
gwascentralrs758206023
openSNPrs758206023
23andMers758206023
SNPshotrs758206023
SNPdbers758206023
MSV3drs758206023
GWAS Ctlgrs758206023
Max Magnitude0
ClinVar
Risk rs758206023(C;C)
Alt rs758206023(C;C)
Reference Rs758206023(G;G)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 0
HGVS NC_000001.10:g.11850900G>C
CLNSRC
CLNACC RCV000167624.1,