rs121908053

Orientation

minus

Stabilized

minus

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

Make rs121908053(C;T)

Make rs121908053(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

67940115

Gene

LCAT

is a	snp
is	mentioned by
dbSNP	rs121908053
dbSNP (classic)	rs121908053
ClinGen	rs121908053
ebi	rs121908053
HLI	rs121908053
Exac	rs121908053
Gnomad	rs121908053
Varsome	rs121908053
LitVar	rs121908053
Map	rs121908053
PheGenI	rs121908053
Biobank	rs121908053
1000 genomes	rs121908053
hgdp	rs121908053
ensembl	rs121908053
geneview	rs121908053
scholar	rs121908053
google	rs121908053
pharmgkb	rs121908053
gwascentral	rs121908053
openSNP	rs121908053
23andMe	rs121908053
SNPshot	rs121908053
SNPdbe	rs121908053
MSV3d	rs121908053
GWAS Ctlg	rs121908053

Max Magnitude

0

OMIM	606967
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908053(T;T)
Alt	rs121908053(T;T)
Reference	Rs121908053(C;C)
Significance	Pathogenic
Disease	Fish-eye disease
Variation	info
Gene	LCAT
CLNDBN	Fish-eye disease
Reversed	1
HGVS	NC_000016.9:g.67974018G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003849.3,