rs864309517

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs864309517(-;-)

Make rs864309517(-;G)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

190312902

Gene	CLDN1, LOC107986170

is a	snp
is	mentioned by
dbSNP	rs864309517
dbSNP (classic)	rs864309517
ClinGen	rs864309517
ebi	rs864309517
HLI	rs864309517
Exac	rs864309517
Gnomad	rs864309517
Varsome	rs864309517
LitVar	rs864309517
Map	rs864309517
PheGenI	rs864309517
Biobank	rs864309517
1000 genomes	rs864309517
hgdp	rs864309517
ensembl	rs864309517
geneview	rs864309517
scholar	rs864309517
google	rs864309517
pharmgkb	rs864309517
gwascentral	rs864309517
openSNP	rs864309517
23andMe	rs864309517
SNPshot	rs864309517
SNPdbe	rs864309517
MSV3d	rs864309517
GWAS Ctlg	rs864309517

Max Magnitude

0

ClinVar
Risk	rs864309517(-;-)
Alt	rs864309517(-;-)
Reference	Rs864309517(G;G)
Significance	Pathogenic
Disease	Ichthyosis
Variation	info
Gene	CLDN1
CLNDBN	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Reversed	1
HGVS	NC_000003.11:g.190030691delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006462.4,