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rs1060499587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;ACAGG) 4 Ichthyosis vulgaris (dry, scaly skin)
(ACAGG;ACAGG) 0 common in clinvar


Make rs1060499587(-;-)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position152313983
GeneFLG, FLG-AS1
is asnp
is mentioned by
dbSNPrs1060499587
dbSNP (classic)rs1060499587
ClinGenrs1060499587
ebirs1060499587
HLIrs1060499587
Exacrs1060499587
Gnomadrs1060499587
Varsomers1060499587
LitVarrs1060499587
Maprs1060499587
PheGenIrs1060499587
Biobankrs1060499587
1000 genomesrs1060499587
hgdprs1060499587
ensemblrs1060499587
geneviewrs1060499587
scholarrs1060499587
googlers1060499587
pharmgkbrs1060499587
gwascentralrs1060499587
openSNPrs1060499587
23andMers1060499587
SNPshotrs1060499587
SNPdbers1060499587
MSV3drs1060499587
GWAS Ctlgrs1060499587
Max Magnitude4

aka c.899_903del (p.Asp300fs)

ClinVar
Risk rs1060499587(-;-)
Alt rs1060499587(-;-)
Reference Rs1060499587(ACAGG;ACAGG)
Significance Probable-Pathogenic
Disease Ichthyosis vulgaris
Variation info
Gene FLG FLG-AS1
CLNDBN Ichthyosis vulgaris
Reversed 1
HGVS NC_000001.10:g.152286459_152286463delCCTGT
CLNSRC
CLNACC RCV000477947.1,