rs28940888

Orientation

minus

Stabilized

minus

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

Make rs28940888(C;T)

Make rs28940888(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

67940193

Gene

LCAT

is a	snp
is	mentioned by
dbSNP	rs28940888
dbSNP (classic)	rs28940888
ClinGen	rs28940888
ebi	rs28940888
HLI	rs28940888
Exac	rs28940888
Gnomad	rs28940888
Varsome	rs28940888
LitVar	rs28940888
Map	rs28940888
PheGenI	rs28940888
Biobank	rs28940888
1000 genomes	rs28940888
hgdp	rs28940888
ensembl	rs28940888
geneview	rs28940888
scholar	rs28940888
google	rs28940888
pharmgkb	rs28940888
gwascentral	rs28940888
openSNP	rs28940888
23andMe	rs28940888
SNPshot	rs28940888
SNPdbe	rs28940888
MSV3d	rs28940888
GWAS Ctlg	rs28940888

Max Magnitude

0

OMIM	606967
Desc	LCAT DEFICIENCY
Variant	0015
Related	also

ClinVar
Risk	rs28940888(A;A) rs28940888(T;T)
Alt	rs28940888(A;A) rs28940888(T;T)
Reference	Rs28940888(C;C)
Significance	Pathogenic
Disease	Norum disease
Variation	info
Gene	LCAT
CLNDBN	Norum disease
Reversed	1
HGVS	NC_000016.9:g.67974096G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003855.3,