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rs759031330

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs759031330(A;A)
Make rs759031330(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11794862
GeneMTHFR
is asnp
is mentioned by
dbSNPrs759031330
dbSNP (classic)rs759031330
ClinGenrs759031330
ebirs759031330
HLIrs759031330
Exacrs759031330
Gnomadrs759031330
Varsomers759031330
LitVarrs759031330
Maprs759031330
PheGenIrs759031330
Biobankrs759031330
1000 genomesrs759031330
hgdprs759031330
ensemblrs759031330
geneviewrs759031330
scholarrs759031330
googlers759031330
pharmgkbrs759031330
gwascentralrs759031330
openSNPrs759031330
23andMers759031330
SNPshotrs759031330
SNPdbers759031330
MSV3drs759031330
GWAS Ctlgrs759031330
Max Magnitude0
ClinVar
Risk rs759031330(A;A)
Alt rs759031330(A;A)
Reference Rs759031330(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.11854919G>A
CLNSRC
CLNACC RCV000416797.1,