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rs786204016

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCA;TCA) 0 common in clinvar
Make rs786204016(-;-)
Make rs786204016(-;TCA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position11796307
GeneMTHFR
is asnp
is mentioned by
dbSNPrs786204016
dbSNP (classic)rs786204016
ClinGenrs786204016
ebirs786204016
HLIrs786204016
Exacrs786204016
Gnomadrs786204016
Varsomers786204016
LitVarrs786204016
Maprs786204016
PheGenIrs786204016
Biobankrs786204016
1000 genomesrs786204016
hgdprs786204016
ensemblrs786204016
geneviewrs786204016
scholarrs786204016
googlers786204016
pharmgkbrs786204016
gwascentralrs786204016
openSNPrs786204016
23andMers786204016
SNPshotrs786204016
SNPdbers786204016
MSV3drs786204016
GWAS Ctlgrs786204016
Max Magnitude0
ClinVar
Risk rs786204016(-;-)
Alt rs786204016(-;-)
Reference Rs786204016(TCA;TCA)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 1
HGVS NC_000001.10:g.11856364_11856366delTGA
CLNSRC
CLNACC RCV000167600.1,