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rs1057519361

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519361(A;A)
Make rs1057519361(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position11796382
GeneMTHFR
is asnp
is mentioned by
dbSNPrs1057519361
dbSNP (old)rs1057519361
ClinGenrs1057519361
ebirs1057519361
HLIrs1057519361
Exacrs1057519361
Gnomadrs1057519361
Varsomers1057519361
Maprs1057519361
PheGenIrs1057519361
Biobankrs1057519361
1000 genomesrs1057519361
hgdprs1057519361
ensemblrs1057519361
gopubmedrs1057519361
geneviewrs1057519361
scholarrs1057519361
googlers1057519361
pharmgkbrs1057519361
gwascentralrs1057519361
openSNPrs1057519361
23andMers1057519361
23andMe allrs1057519361
SNPshotrs1057519361
SNPdbers1057519361
MSV3drs1057519361
GWAS Ctlgrs1057519361
Max Magnitude0
ClinVar
Risk rs1057519361(A;A)
Alt rs1057519361(A;A)
Reference Rs1057519361(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.11856439G>T
CLNSRC
CLNACC RCV000416935.1,