rs28942087

Orientation

minus

Stabilized

minus

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

Make rs28942087(C;C)

Make rs28942087(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

67942413

Gene

LCAT

is a	snp
is	mentioned by
dbSNP	rs28942087
dbSNP (classic)	rs28942087
ClinGen	rs28942087
ebi	rs28942087
HLI	rs28942087
Exac	rs28942087
Gnomad	rs28942087
Varsome	rs28942087
LitVar	rs28942087
Map	rs28942087
PheGenI	rs28942087
Biobank	rs28942087
1000 genomes	rs28942087
hgdp	rs28942087
ensembl	rs28942087
geneview	rs28942087
scholar	rs28942087
google	rs28942087
pharmgkb	rs28942087
gwascentral	rs28942087
openSNP	rs28942087
23andMe	rs28942087
SNPshot	rs28942087
SNPdbe	rs28942087
MSV3d	rs28942087
GWAS Ctlg	rs28942087

Max Magnitude

0

OMIM	606967
Desc	LCAT DEFICIENCY
Variant	0011
Related	also

ClinVar
Risk	rs28942087(C;C)
Alt	rs28942087(C;C)
Reference	Rs28942087(T;T)
Significance	Pathogenic
Disease	Norum disease
Variation	info
Gene	LCAT
CLNDBN	Norum disease
Reversed	1
HGVS	NC_000016.9:g.67976316A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003851.3,