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rs769381688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769381688(A;A)
Make rs769381688(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11801257
GeneMTHFR
is asnp
is mentioned by
dbSNPrs769381688
dbSNP (classic)rs769381688
ClinGenrs769381688
ebirs769381688
HLIrs769381688
Exacrs769381688
Gnomadrs769381688
Varsomers769381688
LitVarrs769381688
Maprs769381688
PheGenIrs769381688
Biobankrs769381688
1000 genomesrs769381688
hgdprs769381688
ensemblrs769381688
geneviewrs769381688
scholarrs769381688
googlers769381688
pharmgkbrs769381688
gwascentralrs769381688
openSNPrs769381688
23andMers769381688
SNPshotrs769381688
SNPdbers769381688
MSV3drs769381688
GWAS Ctlgrs769381688
Max Magnitude0
ClinVar
Risk rs769381688(A;A)
Alt rs769381688(A;A)
Reference Rs769381688(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.11861314G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000167593.1,