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rs780014899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs780014899(-;-)
Make rs780014899(-;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11794540
GeneMTHFR
is asnp
is mentioned by
dbSNPrs780014899
dbSNP (classic)rs780014899
ClinGenrs780014899
ebirs780014899
HLIrs780014899
Exacrs780014899
Gnomadrs780014899
Varsomers780014899
LitVarrs780014899
Maprs780014899
PheGenIrs780014899
Biobankrs780014899
1000 genomesrs780014899
hgdprs780014899
ensemblrs780014899
geneviewrs780014899
scholarrs780014899
googlers780014899
pharmgkbrs780014899
gwascentralrs780014899
openSNPrs780014899
23andMers780014899
SNPshotrs780014899
SNPdbers780014899
MSV3drs780014899
GWAS Ctlgrs780014899
Max Magnitude0
ClinVar
Risk rs780014899(-;-)
Alt rs780014899(-;-)
Reference Rs780014899(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.11854597delT
CLNSRC
CLNACC RCV000167611.1,