rs138726443

plus

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

Make rs138726443(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

152307547

Gene

FLG

is a	snp
is	mentioned by
dbSNP	rs138726443
dbSNP (classic)	rs138726443
ClinGen	rs138726443
ebi	rs138726443
HLI	rs138726443
Exac	rs138726443
Gnomad	rs138726443
Varsome	rs138726443
LitVar	rs138726443
Map	rs138726443
PheGenI	rs138726443
Biobank	rs138726443
1000 genomes	rs138726443
hgdp	rs138726443
ensembl	rs138726443
geneview	rs138726443
scholar	rs138726443
google	rs138726443
pharmgkb	rs138726443
gwascentral	rs138726443
openSNP	rs138726443
23andMe	rs138726443
SNPshot	rs138726443
SNPdbe	rs138726443
MSV3d	rs138726443
GWAS Ctlg	rs138726443

Max Magnitude

4

aka c.7339C>T (p.Arg2447Ter or R2447X)

Dominantly inherited variant pathogenic for ichthyosis vulgaris in ClinVar, and also associated with higher odds of eczema (OR 1.96, CI:1.69-2.27).[PMID 30665703 ]

ClinVar
Risk	rs138726443(A;A) rs138726443(C;C) rs138726443(T;T)
Alt	rs138726443(A;A) rs138726443(C;C) rs138726443(T;T)
Reference	Rs138726443(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	FLG
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.152280023G>A
CLNSRC
CLNACC	RCV000255655.2,