Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519362

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519362(-;-)
Make rs1057519362(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11796324
GeneMTHFR
is asnp
is mentioned by
dbSNPrs1057519362
dbSNP (classic)rs1057519362
ClinGenrs1057519362
ebirs1057519362
HLIrs1057519362
Exacrs1057519362
Gnomadrs1057519362
Varsomers1057519362
LitVarrs1057519362
Maprs1057519362
PheGenIrs1057519362
Biobankrs1057519362
1000 genomesrs1057519362
hgdprs1057519362
ensemblrs1057519362
geneviewrs1057519362
scholarrs1057519362
googlers1057519362
pharmgkbrs1057519362
gwascentralrs1057519362
openSNPrs1057519362
23andMers1057519362
SNPshotrs1057519362
SNPdbers1057519362
MSV3drs1057519362
GWAS Ctlgrs1057519362
Max Magnitude0
ClinVar
Risk rs1057519362(-;-)
Alt rs1057519362(-;-)
Reference Rs1057519362(G;G)
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.11856381delC
CLNSRC
CLNACC RCV000416691.1,