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rs763539350

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs763539350(C;C)
Make rs763539350(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position11802915
GeneMTHFR
is asnp
is mentioned by
dbSNPrs763539350
dbSNP (classic)rs763539350
ClinGenrs763539350
ebirs763539350
HLIrs763539350
Exacrs763539350
Gnomadrs763539350
Varsomers763539350
LitVarrs763539350
Maprs763539350
PheGenIrs763539350
Biobankrs763539350
1000 genomesrs763539350
hgdprs763539350
ensemblrs763539350
geneviewrs763539350
scholarrs763539350
googlers763539350
pharmgkbrs763539350
gwascentralrs763539350
openSNPrs763539350
23andMers763539350
SNPshotrs763539350
SNPdbers763539350
MSV3drs763539350
GWAS Ctlgrs763539350
Max Magnitude0
ClinVar
Risk rs763539350(A;A) rs763539350(C;C)
Alt rs763539350(A;A) rs763539350(C;C)
Reference Rs763539350(G;G)
Significance Pathogenic
Disease Homocysteinemia due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocysteinemia due to MTHFR deficiency
Reversed 0
HGVS NC_000001.10:g.11862972G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000167589.1,