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rs121918405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918405(C;T)
Make rs121918405(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72195454
GeneFOLR1
is asnp
is mentioned by
dbSNPrs121918405
dbSNP (classic)rs121918405
ClinGenrs121918405
ebirs121918405
HLIrs121918405
Exacrs121918405
Gnomadrs121918405
Varsomers121918405
LitVarrs121918405
Maprs121918405
PheGenIrs121918405
Biobankrs121918405
1000 genomesrs121918405
hgdprs121918405
ensemblrs121918405
geneviewrs121918405
scholarrs121918405
googlers121918405
pharmgkbrs121918405
gwascentralrs121918405
openSNPrs121918405
23andMers121918405
SNPshotrs121918405
SNPdbers121918405
MSV3drs121918405
GWAS Ctlgrs121918405
Max Magnitude0
OMIM136430
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918405(T;T)
Alt rs121918405(T;T)
Reference Rs121918405(C;C)
Significance Pathogenic
Disease Cerebral folate deficiency
Variation info
Gene FOLR1
CLNDBN Cerebral folate deficiency
Reversed 0
HGVS NC_000011.9:g.71906498C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017643.28,