rs28940887

Orientation

minus

Stabilized

minus

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

Make rs28940887(C;T)

Make rs28940887(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

67942719

Gene

LCAT

is a	snp
is	mentioned by
dbSNP	rs28940887
dbSNP (classic)	rs28940887
ClinGen	rs28940887
ebi	rs28940887
HLI	rs28940887
Exac	rs28940887
Gnomad	rs28940887
Varsome	rs28940887
LitVar	rs28940887
Map	rs28940887
PheGenI	rs28940887
Biobank	rs28940887
1000 genomes	rs28940887
hgdp	rs28940887
ensembl	rs28940887
geneview	rs28940887
scholar	rs28940887
google	rs28940887
pharmgkb	rs28940887
gwascentral	rs28940887
openSNP	rs28940887
23andMe	rs28940887
SNPshot	rs28940887
SNPdbe	rs28940887
MSV3d	rs28940887
GWAS Ctlg	rs28940887

Max Magnitude

0

OMIM	606967
Desc	LCAT DEFICIENCY
Variant	0013
Related	also

ClinVar
Risk	rs28940887(T;T)
Alt	rs28940887(T;T)
Reference	Rs28940887(C;C)
Significance	Pathogenic
Disease	Norum disease
Variation	info
Gene	LCAT
CLNDBN	Norum disease
Reversed	1
HGVS	NC_000016.9:g.67976622G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003853.3,