rs150597413

plus

Geno	Mag	Summary
(G;T)	4	Ichthyosis vulgaris (dry, scaly skin)

Make rs150597413(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

152305146

Gene

FLG

is a	snp
is	mentioned by
dbSNP	rs150597413
dbSNP (classic)	rs150597413
ClinGen	rs150597413
ebi	rs150597413
HLI	rs150597413
Exac	rs150597413
Gnomad	rs150597413
Varsome	rs150597413
LitVar	rs150597413
Map	rs150597413
PheGenI	rs150597413
Biobank	rs150597413
1000 genomes	rs150597413
hgdp	rs150597413
ensembl	rs150597413
geneview	rs150597413
scholar	rs150597413
google	rs150597413
pharmgkb	rs150597413
gwascentral	rs150597413
openSNP	rs150597413
23andMe	rs150597413
SNPshot	rs150597413
SNPdbe	rs150597413
MSV3d	rs150597413
GWAS Ctlg	rs150597413

Max Magnitude

4

aka c.9740C>A (p.Ser3247Ter or S3247X)

Dominantly inherited variant pathogenic for ichthyosis vulgaris in ClinVar, and also associated with higher odds of eczema (OR 1.66, CI:1.4-1.98).[PMID 30665703 ]

ClinVar
Risk	rs150597413(A;A) rs150597413(T;T)
Alt	rs150597413(A;A) rs150597413(T;T)
Reference	Rs150597413(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	FLG
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.152277622G>T
CLNSRC
CLNACC	RCV000255466.1,