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rs373398993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs373398993(A;T)
Make rs373398993(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11796219
GeneMTHFR
is asnp
is mentioned by
dbSNPrs373398993
dbSNP (classic)rs373398993
ClinGenrs373398993
ebirs373398993
HLIrs373398993
Exacrs373398993
Gnomadrs373398993
Varsomers373398993
LitVarrs373398993
Maprs373398993
PheGenIrs373398993
Biobankrs373398993
1000 genomesrs373398993
hgdprs373398993
ensemblrs373398993
geneviewrs373398993
scholarrs373398993
googlers373398993
pharmgkbrs373398993
gwascentralrs373398993
openSNPrs373398993
23andMers373398993
SNPshotrs373398993
SNPdbers373398993
MSV3drs373398993
GWAS Ctlgrs373398993
Max Magnitude0
ClinVar
Risk rs373398993(T;T)
Alt rs373398993(T;T)
Reference Rs373398993(A;A)
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.11856276A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000167603.1,