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rs1057519359

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519359(A;A)
Make rs1057519359(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11802880
GeneMTHFR
is asnp
is mentioned by
dbSNPrs1057519359
dbSNP (classic)rs1057519359
ClinGenrs1057519359
ebirs1057519359
HLIrs1057519359
Exacrs1057519359
Gnomadrs1057519359
Varsomers1057519359
LitVarrs1057519359
Maprs1057519359
PheGenIrs1057519359
Biobankrs1057519359
1000 genomesrs1057519359
hgdprs1057519359
ensemblrs1057519359
geneviewrs1057519359
scholarrs1057519359
googlers1057519359
pharmgkbrs1057519359
gwascentralrs1057519359
openSNPrs1057519359
23andMers1057519359
23andMe allrs1057519359
SNPshotrs1057519359
SNPdbers1057519359
MSV3drs1057519359
GWAS Ctlgrs1057519359
Max Magnitude0
ClinVar
Risk rs1057519359(A;A)
Alt rs1057519359(A;A)
Reference Rs1057519359(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.11862937C>T
CLNSRC
CLNACC RCV000416674.1,