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rs747846362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs747846362(A;A)
Make rs747846362(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11791206
GeneMTHFR
is asnp
is mentioned by
dbSNPrs747846362
dbSNP (classic)rs747846362
ClinGenrs747846362
ebirs747846362
HLIrs747846362
Exacrs747846362
Gnomadrs747846362
Varsomers747846362
LitVarrs747846362
Maprs747846362
PheGenIrs747846362
Biobankrs747846362
1000 genomesrs747846362
hgdprs747846362
ensemblrs747846362
geneviewrs747846362
scholarrs747846362
googlers747846362
pharmgkbrs747846362
gwascentralrs747846362
openSNPrs747846362
23andMers747846362
SNPshotrs747846362
SNPdbers747846362
MSV3drs747846362
GWAS Ctlgrs747846362
Max Magnitude0
ClinVar
Risk rs747846362(A;A)
Alt rs747846362(A;A)
Reference Rs747846362(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.11851263C>A
CLNSRC
CLNACC RCV000167620.1,