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rs141784184

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Ichthyosis vulgaris (dry, scaly skin)
Make rs141784184(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position152309169
GeneFLG
is asnp
is mentioned by
dbSNPrs141784184
dbSNP (classic)rs141784184
ClinGenrs141784184
ebirs141784184
HLIrs141784184
Exacrs141784184
Gnomadrs141784184
Varsomers141784184
LitVarrs141784184
Maprs141784184
PheGenIrs141784184
Biobankrs141784184
1000 genomesrs141784184
hgdprs141784184
ensemblrs141784184
geneviewrs141784184
scholarrs141784184
googlers141784184
pharmgkbrs141784184
gwascentralrs141784184
openSNPrs141784184
23andMers141784184
SNPshotrs141784184
SNPdbers141784184
MSV3drs141784184
GWAS Ctlgrs141784184
Max Magnitude4

aka c.5717C>A (p.Ser1906Ter)

ClinVar
Risk rs141784184(A;A) rs141784184(T;T)
Alt rs141784184(A;A) rs141784184(T;T)
Reference Rs141784184(G;G)
Significance Probable-Pathogenic
Disease Ichthyosis vulgaris
Variation info
Gene FLG
CLNDBN Ichthyosis vulgaris
Reversed 0
HGVS NC_000001.10:g.152281645G>T
CLNSRC
CLNACC RCV000490339.1,