rs797045090

Orientation

minus

Stabilized

minus

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

Make rs797045090(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

152312743

Gene	FLG, FLG-AS1

is a	snp
is	mentioned by
dbSNP	rs797045090
dbSNP (classic)	rs797045090
ClinGen	rs797045090
ebi	rs797045090
HLI	rs797045090
Exac	rs797045090
Gnomad	rs797045090
Varsome	rs797045090
LitVar	rs797045090
Map	rs797045090
PheGenI	rs797045090
Biobank	rs797045090
1000 genomes	rs797045090
hgdp	rs797045090
ensembl	rs797045090
geneview	rs797045090
scholar	rs797045090
google	rs797045090
pharmgkb	rs797045090
gwascentral	rs797045090
openSNP	rs797045090
23andMe	rs797045090
SNPshot	rs797045090
SNPdbe	rs797045090
MSV3d	rs797045090
GWAS Ctlg	rs797045090

Max Magnitude

4

aka c.2143C>T (p.Gln715Ter)

ClinVar
Risk	rs797045090(T;T)
Alt	rs797045090(T;T)
Reference	Rs797045090(C;C)
Significance	Pathogenic
Disease	Ichthyosis vulgaris
Variation	info
Gene	FLG FLG-AS1
CLNDBN	Ichthyosis vulgaris
Reversed	1
HGVS	NC_000001.10:g.152285219G>A
CLNSRC
CLNACC	RCV000190587.1,