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rs267606886

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606886(G;G)
Make rs267606886(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position11795114
GeneMTHFR
is asnp
is mentioned by
dbSNPrs267606886
dbSNP (classic)rs267606886
ClinGenrs267606886
ebirs267606886
HLIrs267606886
Exacrs267606886
Gnomadrs267606886
Varsomers267606886
LitVarrs267606886
Maprs267606886
PheGenIrs267606886
Biobankrs267606886
1000 genomesrs267606886
hgdprs267606886
ensemblrs267606886
geneviewrs267606886
scholarrs267606886
googlers267606886
pharmgkbrs267606886
gwascentralrs267606886
openSNPrs267606886
23andMers267606886
SNPshotrs267606886
SNPdbers267606886
MSV3drs267606886
GWAS Ctlgrs267606886
Max Magnitude0
ClinVar
Risk rs267606886(G;G)
Alt rs267606886(G;G)
Reference Rs267606886(T;T)
Significance Pathogenic
Disease Homocystinuria due to MTHFR deficiency
Variation info
Gene MTHFR
CLNDBN Homocystinuria due to MTHFR deficiency
Reversed 1
HGVS NC_000001.10:g.11855171A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003701.2,