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

rs797045090

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 Ichthyosis vulgaris (dry, scaly skin)
Make rs797045090(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position152312743
GeneFLG, FLG-AS1
is asnp
is mentioned by
dbSNPrs797045090
dbSNP (classic)rs797045090
ClinGenrs797045090
ebirs797045090
HLIrs797045090
Exacrs797045090
Gnomadrs797045090
Varsomers797045090
LitVarrs797045090
Maprs797045090
PheGenIrs797045090
Biobankrs797045090
1000 genomesrs797045090
hgdprs797045090
ensemblrs797045090
geneviewrs797045090
scholarrs797045090
googlers797045090
pharmgkbrs797045090
gwascentralrs797045090
openSNPrs797045090
23andMers797045090
SNPshotrs797045090
SNPdbers797045090
MSV3drs797045090
GWAS Ctlgrs797045090
Max Magnitude4

aka c.2143C>T (p.Gln715Ter)

ClinVar
Risk rs797045090(T;T)
Alt rs797045090(T;T)
Reference Rs797045090(C;C)
Significance Pathogenic
Disease Ichthyosis vulgaris
Variation info
Gene FLG FLG-AS1
CLNDBN Ichthyosis vulgaris
Reversed 1
HGVS NC_000001.10:g.152285219G>A
CLNSRC
CLNACC RCV000190587.1,