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rs535289422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Ichthyosis vulgaris (dry, scaly skin)
(G;G) 0 common in clinvar


Make rs535289422(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position152307697
GeneFLG
is asnp
is mentioned by
dbSNPrs535289422
dbSNP (classic)rs535289422
ClinGenrs535289422
ebirs535289422
HLIrs535289422
Exacrs535289422
Gnomadrs535289422
Varsomers535289422
LitVarrs535289422
Maprs535289422
PheGenIrs535289422
Biobankrs535289422
1000 genomesrs535289422
hgdprs535289422
ensemblrs535289422
geneviewrs535289422
scholarrs535289422
googlers535289422
pharmgkbrs535289422
gwascentralrs535289422
openSNPrs535289422
23andMers535289422
SNPshotrs535289422
SNPdbers535289422
MSV3drs535289422
GWAS Ctlgrs535289422
Max Magnitude4

aka c.7189C>T (p.Gln2397Ter)

ClinVar
Risk rs535289422(A;A) rs535289422(C;C)
Alt rs535289422(A;A) rs535289422(C;C)
Reference Rs535289422(G;G)
Significance Pathogenic
Disease Ichthyosis vulgaris
Variation info
Gene FLG
CLNDBN Ichthyosis vulgaris
Reversed 0
HGVS NC_000001.10:g.152280173G>A
CLNSRC
CLNACC RCV000490295.1,