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

rs144637717

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs144637717(C;C)
Make rs144637717(C;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position72195749
GeneFOLR1
is asnp
is mentioned by
dbSNPrs144637717
dbSNP (classic)rs144637717
ClinGenrs144637717
ebirs144637717
HLIrs144637717
Exacrs144637717
Gnomadrs144637717
Varsomers144637717
LitVarrs144637717
Maprs144637717
PheGenIrs144637717
Biobankrs144637717
1000 genomesrs144637717
hgdprs144637717
ensemblrs144637717
geneviewrs144637717
scholarrs144637717
googlers144637717
pharmgkbrs144637717
gwascentralrs144637717
openSNPrs144637717
23andMers144637717
SNPshotrs144637717
SNPdbers144637717
MSV3drs144637717
GWAS Ctlgrs144637717
Max Magnitude0
ClinVar
Risk rs144637717(C;C)
Alt rs144637717(C;C)
Reference Rs144637717(T;T)
Significance Pathogenic
Disease not provided not specified Cerebral folate deficiency
Variation info
Gene FOLR1
CLNDBN not provided not specified Cerebral folate deficiency
Reversed 0
HGVS NC_000011.9:g.71906793T>C
CLNSRC HGMD
CLNACC RCV000081793.6, RCV000235166.2, RCV000356764.1,