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rs138189536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs138189536(A;A)
Make rs138189536(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11802981
GeneMTHFR
is asnp
is mentioned by
dbSNPrs138189536
dbSNP (classic)rs138189536
ClinGenrs138189536
ebirs138189536
HLIrs138189536
Exacrs138189536
Gnomadrs138189536
Varsomers138189536
LitVarrs138189536
Maprs138189536
PheGenIrs138189536
Biobankrs138189536
1000 genomesrs138189536
hgdprs138189536
ensemblrs138189536
geneviewrs138189536
scholarrs138189536
googlers138189536
pharmgkbrs138189536
gwascentralrs138189536
openSNPrs138189536
23andMers138189536
SNPshotrs138189536
SNPdbers138189536
MSV3drs138189536
GWAS Ctlgrs138189536
Max Magnitude0
ClinVar
Risk rs138189536(A;A)
Alt rs138189536(A;A)
Reference Rs138189536(G;G)
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.11863038G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000167586.1,