rs112368783

Orientation

plus

Stabilized

plus

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

Make rs112368783(-;-)

Make rs112368783(-;C)

Reference

GRCh38.p2 38.2/146

Chromosome

13

Position

28659090

Gene

POMP

is a	snp
is	mentioned by
dbSNP	rs112368783
dbSNP (classic)	rs112368783
ClinGen	rs112368783
ebi	rs112368783
HLI	rs112368783
Exac	rs112368783
Gnomad	rs112368783
Varsome	rs112368783
LitVar	rs112368783
Map	rs112368783
PheGenI	rs112368783
Biobank	rs112368783
1000 genomes	rs112368783
hgdp	rs112368783
ensembl	rs112368783
geneview	rs112368783
scholar	rs112368783
google	rs112368783
pharmgkb	rs112368783
gwascentral	rs112368783
openSNP	rs112368783
23andMe	rs112368783
SNPshot	rs112368783
SNPdbe	rs112368783
MSV3d	rs112368783
GWAS Ctlg	rs112368783

Max Magnitude

0

ClinVar
Risk	rs112368783(-;-)
Alt	rs112368783(-;-)
Reference	Rs112368783(C;C)
Significance	Pathogenic
Disease	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Variation	info
Gene	POMP
CLNDBN	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Reversed	0
HGVS	NC_000013.10:g.29233227delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000136.2,