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rs140980397

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140980397(C;C)
Make rs140980397(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position152308956
GeneFLG
is asnp
is mentioned by
dbSNPrs140980397
dbSNP (old)rs140980397
ClinGenrs140980397
ebirs140980397
HLIrs140980397
Exacrs140980397
Gnomadrs140980397
Varsomers140980397
Maprs140980397
PheGenIrs140980397
Biobankrs140980397
1000 genomesrs140980397
hgdprs140980397
ensemblrs140980397
gopubmedrs140980397
geneviewrs140980397
scholarrs140980397
googlers140980397
pharmgkbrs140980397
gwascentralrs140980397
openSNPrs140980397
23andMers140980397
23andMe allrs140980397
SNPshotrs140980397
SNPdbers140980397
MSV3drs140980397
GWAS Ctlgrs140980397
Max Magnitude0
ClinVar
Risk rs140980397(A;A) rs140980397(C;C) rs140980397(T;T)
Alt rs140980397(A;A) rs140980397(C;C) rs140980397(T;T)
Reference Rs140980397(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FLG
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.152281432G>C
CLNSRC
CLNACC RCV000486896.1,


The S1977X variant in the FLG gene has not been reported previously as a pathogenic variant noras a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction through protein truncation. The S1977X variant was not observed at any significant frequency inapproximately 6500 individuals of European and African American ancestry. [1]