rs119479067

Orientation

minus

Stabilized

minus

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

Make rs119479067(A;A)

Make rs119479067(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43823981

Gene	ABCG5, DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs119479067
dbSNP (classic)	rs119479067
ClinGen	rs119479067
ebi	rs119479067
HLI	rs119479067
Exac	rs119479067
Gnomad	rs119479067
Varsome	rs119479067
LitVar	rs119479067
Map	rs119479067
PheGenI	rs119479067
Biobank	rs119479067
1000 genomes	rs119479067
hgdp	rs119479067
ensembl	rs119479067
geneview	rs119479067
scholar	rs119479067
google	rs119479067
pharmgkb	rs119479067
gwascentral	rs119479067
openSNP	rs119479067
23andMe	rs119479067
SNPshot	rs119479067
SNPdbe	rs119479067
MSV3d	rs119479067
GWAS Ctlg	rs119479067

Max Magnitude

0

OMIM	605459
Desc
Variant	0003
Related	also

OMIM	605459
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119479067(A;A) rs119479067(C;C)
Alt	rs119479067(A;A) rs119479067(C;C)
Reference	Rs119479067(G;G)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	DYNC2LI1 ABCG5
CLNDBN	Sitosterolemia
Reversed	1
HGVS	NC_000002.11:g.44051120C>G; NC_000002.11:g.44051120C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005267.3, RCV000005266.2,