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rs114733570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs114733570(A;A)
Make rs114733570(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position152315363
GeneFLG, FLG-AS1
is asnp
is mentioned by
dbSNPrs114733570
dbSNP (classic)rs114733570
ClinGenrs114733570
ebirs114733570
HLIrs114733570
Exacrs114733570
Gnomadrs114733570
Varsomers114733570
LitVarrs114733570
Maprs114733570
PheGenIrs114733570
Biobankrs114733570
1000 genomesrs114733570
hgdprs114733570
ensemblrs114733570
geneviewrs114733570
scholarrs114733570
googlers114733570
pharmgkbrs114733570
gwascentralrs114733570
openSNPrs114733570
23andMers114733570
23andMe allrs114733570
SNPshotrs114733570
SNPdbers114733570
MSV3drs114733570
GWAS Ctlgrs114733570
Max Magnitude0
ClinVar
Risk rs114733570(A;A)
Alt rs114733570(A;A)
Reference Rs114733570(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene FLG FLG-AS1
CLNDBN not provided
Reversed 0
HGVS NC_000001.10:g.152287839C>A
CLNSRC
CLNACC RCV000300225.1,


The E32X pathogenic variant in the FLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function through protein truncation. The E32X variant is observed in 21/66,714 (0.032%) alleles from individuals of European (non-Finnish) background in the ExAC dataset (Lek et al., 2016). We interpret E32X as a variant of uncertain significance. [1]