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rs147257424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs147257424(C;T)
Make rs147257424(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11801299
GeneMTHFR
is asnp
is mentioned by
dbSNPrs147257424
dbSNP (classic)rs147257424
ClinGenrs147257424
ebirs147257424
HLIrs147257424
Exacrs147257424
Gnomadrs147257424
Varsomers147257424
LitVarrs147257424
Maprs147257424
PheGenIrs147257424
Biobankrs147257424
1000 genomesrs147257424
hgdprs147257424
ensemblrs147257424
geneviewrs147257424
scholarrs147257424
googlers147257424
pharmgkbrs147257424
gwascentralrs147257424
openSNPrs147257424
23andMers147257424
SNPshotrs147257424
SNPdbers147257424
MSV3drs147257424
GWAS Ctlgrs147257424
Max Magnitude0
ClinVar
Risk rs147257424(A;A) rs147257424(T;T)
Alt rs147257424(A;A) rs147257424(T;T)
Reference Rs147257424(C;C)
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.11861356C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000167592.1,