Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918406(A;A)
Make rs121918406(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position72195928
GeneFOLR1
is asnp
is mentioned by
dbSNPrs121918406
dbSNP (classic)rs121918406
ClinGenrs121918406
ebirs121918406
HLIrs121918406
Exacrs121918406
Gnomadrs121918406
Varsomers121918406
LitVarrs121918406
Maprs121918406
PheGenIrs121918406
Biobankrs121918406
1000 genomesrs121918406
hgdprs121918406
ensemblrs121918406
geneviewrs121918406
scholarrs121918406
googlers121918406
pharmgkbrs121918406
gwascentralrs121918406
openSNPrs121918406
23andMers121918406
SNPshotrs121918406
SNPdbers121918406
MSV3drs121918406
GWAS Ctlgrs121918406
Max Magnitude0
OMIM136430
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918406(A;A) rs121918406(T;T)
Alt rs121918406(A;A) rs121918406(T;T)
Reference Rs121918406(C;C)
Significance Pathogenic
Disease Cerebral folate deficiency
Variation info
Gene FOLR1
CLNDBN Cerebral folate deficiency
Reversed 0
HGVS NC_000011.9:g.71906972C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017644.29,