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

rs1057519363

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519363(-;-)
Make rs1057519363(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11792317
GeneMTHFR
is asnp
is mentioned by
dbSNPrs1057519363
dbSNP (old)rs1057519363
ClinGenrs1057519363
ebirs1057519363
HLIrs1057519363
Exacrs1057519363
Gnomadrs1057519363
Varsomers1057519363
Maprs1057519363
PheGenIrs1057519363
Biobankrs1057519363
1000 genomesrs1057519363
hgdprs1057519363
ensemblrs1057519363
gopubmedrs1057519363
geneviewrs1057519363
scholarrs1057519363
googlers1057519363
pharmgkbrs1057519363
gwascentralrs1057519363
openSNPrs1057519363
23andMers1057519363
23andMe allrs1057519363
SNPshotrs1057519363
SNPdbers1057519363
MSV3drs1057519363
GWAS Ctlgrs1057519363
Max Magnitude0
ClinVar
Risk rs1057519363(-;-)
Alt rs1057519363(-;-)
Reference Rs1057519363(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.11852374delC
CLNSRC
CLNACC RCV000416933.1,