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rs761212672

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4 Ichthyosis vulgaris (dry, scaly skin)
Make rs761212672(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position152304999
GeneFLG
is asnp
is mentioned by
dbSNPrs761212672
dbSNP (classic)rs761212672
ClinGenrs761212672
ebirs761212672
HLIrs761212672
Exacrs761212672
Gnomadrs761212672
Varsomers761212672
LitVarrs761212672
Maprs761212672
PheGenIrs761212672
Biobankrs761212672
1000 genomesrs761212672
hgdprs761212672
ensemblrs761212672
geneviewrs761212672
scholarrs761212672
googlers761212672
pharmgkbrs761212672
gwascentralrs761212672
openSNPrs761212672
23andMers761212672
SNPshotrs761212672
SNPdbers761212672
MSV3drs761212672
GWAS Ctlgrs761212672
Max Magnitude4

aka c.9887C>A (p.Ser3296Ter)

ClinVar
Risk rs761212672(T;T)
Alt rs761212672(T;T)
Reference Rs761212672(G;G)
Significance Pathogenic
Disease Ichthyosis vulgaris
Variation info
Gene FLG
CLNDBN Ichthyosis vulgaris
Reversed 0
HGVS NC_000001.10:g.152277475G>T
CLNSRC
CLNACC RCV000490523.1,