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rs200100285

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs200100285
ClinGenrs200100285
ebirs200100285
HLIrs200100285
Exacrs200100285
Gnomadrs200100285
Varsomers200100285
LitVarrs200100285
Maprs200100285
PheGenIrs200100285
Biobankrs200100285
1000 genomesrs200100285
hgdprs200100285
ensemblrs200100285
geneviewrs200100285
scholarrs200100285
googlers200100285
pharmgkbrs200100285
gwascentralrs200100285
openSNPrs200100285
23andMers200100285
SNPshotrs200100285
SNPdbers200100285
MSV3drs200100285
GWAS Ctlgrs200100285
Max Magnitude0
ClinVar
Risk rs200100285(C;C) rs200100285(G;G)
Alt rs200100285(C;C) rs200100285(G;G)
Reference Rs200100285(T;T)
Significance Pathogenic
Disease Neural tube defects Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Neural tube defects, folate-sensitive Homocysteinemia due to MTHFR deficiency
Reversed 0
HGVS NC_000001.10:g.11856370T>C; NC_000001.10:g.11856370T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000361645.1, RCV000167599.1,