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rs200137991

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200137991(A;A)
Make rs200137991(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11794443
GeneMTHFR
is asnp
is mentioned by
dbSNPrs200137991
ebirs200137991
HLIrs200137991
Exacrs200137991
Varsomers200137991
Maprs200137991
PheGenIrs200137991
hapmaprs200137991
1000 genomesrs200137991
hgdprs200137991
ensemblrs200137991
gopubmedrs200137991
geneviewrs200137991
scholarrs200137991
googlers200137991
pharmgkbrs200137991
gwascentralrs200137991
openSNPrs200137991
23andMers200137991
23andMe allrs200137991
SNP Nexus

SNPshotrs200137991
SNPdbers200137991
MSV3drs200137991
GWAS Ctlgrs200137991
Max Magnitude0
ClinVar
Risk rs200137991(A,G;A,G)
Alt rs200137991(A,G;A,G)
Reference rs200137991(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.11854500C>G
CLNSRC
CLNACC RCV000167612.1,