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rs200100285

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs200100285(C;C)
Make rs200100285(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11796313
GeneMTHFR
is asnp
is mentioned by
dbSNPrs200100285
ebirs200100285
HLIrs200100285
Exacrs200100285
Varsomers200100285
Maprs200100285
PheGenIrs200100285
hapmaprs200100285
1000 genomesrs200100285
hgdprs200100285
ensemblrs200100285
gopubmedrs200100285
geneviewrs200100285
scholarrs200100285
googlers200100285
pharmgkbrs200100285
gwascentralrs200100285
openSNPrs200100285
23andMers200100285
23andMe allrs200100285
SNP Nexus

SNPshotrs200100285
SNPdbers200100285
MSV3drs200100285
GWAS Ctlgrs200100285
Max Magnitude0
ClinVar
Risk rs200100285(C,G;C,G)
Alt rs200100285(C,G;C,G)
Reference rs200100285(T;T)
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.11856370T>G
CLNSRC
CLNACC RCV000167599.1,