rs119479066

Orientation

minus

Stabilized

minus

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

Make rs119479066(C;T)

Make rs119479066(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43826429

Gene	ABCG5, DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs119479066
dbSNP (classic)	rs119479066
ClinGen	rs119479066
ebi	rs119479066
HLI	rs119479066
Exac	rs119479066
Gnomad	rs119479066
Varsome	rs119479066
LitVar	rs119479066
Map	rs119479066
PheGenI	rs119479066
Biobank	rs119479066
1000 genomes	rs119479066
hgdp	rs119479066
ensembl	rs119479066
geneview	rs119479066
scholar	rs119479066
google	rs119479066
pharmgkb	rs119479066
gwascentral	rs119479066
openSNP	rs119479066
23andMe	rs119479066
SNPshot	rs119479066
SNPdbe	rs119479066
MSV3d	rs119479066
GWAS Ctlg	rs119479066

Max Magnitude

0

OMIM	605459
Desc
Variant	0002
Related	also

ClinVar
Risk	rs119479066(T;T)
Alt	rs119479066(T;T)
Reference	Rs119479066(C;C)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	DYNC2LI1 ABCG5
CLNDBN	Sitosterolemia
Reversed	1
HGVS	NC_000002.11:g.44053568G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005265.2,