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rs1057519360

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519360(C;T)
Make rs1057519360(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11801220
GeneMTHFR
is asnp
is mentioned by
dbSNPrs1057519360
dbSNP (old)rs1057519360
ClinGenrs1057519360
ebirs1057519360
HLIrs1057519360
Exacrs1057519360
Gnomadrs1057519360
Varsomers1057519360
Maprs1057519360
PheGenIrs1057519360
Biobankrs1057519360
1000 genomesrs1057519360
hgdprs1057519360
ensemblrs1057519360
gopubmedrs1057519360
geneviewrs1057519360
scholarrs1057519360
googlers1057519360
pharmgkbrs1057519360
gwascentralrs1057519360
openSNPrs1057519360
23andMers1057519360
23andMe allrs1057519360
SNPshotrs1057519360
SNPdbers1057519360
MSV3drs1057519360
GWAS Ctlgrs1057519360
Max Magnitude0
ClinVar
Risk rs1057519360(T;T)
Alt rs1057519360(T;T)
Reference Rs1057519360(C;C)
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.11861277G>A
CLNSRC
CLNACC RCV000416816.1,