rs754812742

Orientation

plus

Stabilized

plus

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

Make rs754812742(A;A)

Make rs754812742(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

152310981

Gene

FLG

is a	snp
is	mentioned by
dbSNP	rs754812742
dbSNP (classic)	rs754812742
ClinGen	rs754812742
ebi	rs754812742
HLI	rs754812742
Exac	rs754812742
Gnomad	rs754812742
Varsome	rs754812742
LitVar	rs754812742
Map	rs754812742
PheGenI	rs754812742
Biobank	rs754812742
1000 genomes	rs754812742
hgdp	rs754812742
ensembl	rs754812742
geneview	rs754812742
scholar	rs754812742
google	rs754812742
pharmgkb	rs754812742
gwascentral	rs754812742
openSNP	rs754812742
23andMe	rs754812742
SNPshot	rs754812742
SNPdbe	rs754812742
MSV3d	rs754812742
GWAS Ctlg	rs754812742

Max Magnitude

4

aka c.3905C>A (p.Ser1302Ter); also c.3905C>T; the former is pathogenic for ichythosis vulgaris

ClinVar
Risk	rs754812742(A;A) rs754812742(T;T)
Alt	rs754812742(A;A) rs754812742(T;T)
Reference	Rs754812742(G;G)
Significance	Pathogenic
Disease	Ichthyosis vulgaris
Variation	info
Gene	FLG
CLNDBN	Ichthyosis vulgaris
Reversed	0
HGVS	NC_000001.10:g.152283457G>T
CLNSRC
CLNACC	RCV000490412.1,