rs119480070

Orientation

minus

Stabilized

minus

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

Make rs119480070(G;T)

Make rs119480070(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43837870

Gene	ABCG5, ABCG8

is a	snp
is	mentioned by
dbSNP	rs119480070
dbSNP (classic)	rs119480070
ClinGen	rs119480070
ebi	rs119480070
HLI	rs119480070
Exac	rs119480070
Gnomad	rs119480070
Varsome	rs119480070
LitVar	rs119480070
Map	rs119480070
PheGenI	rs119480070
Biobank	rs119480070
1000 genomes	rs119480070
hgdp	rs119480070
ensembl	rs119480070
geneview	rs119480070
scholar	rs119480070
google	rs119480070
pharmgkb	rs119480070
gwascentral	rs119480070
openSNP	rs119480070
23andMe	rs119480070
SNPshot	rs119480070
SNPdbe	rs119480070
MSV3d	rs119480070
GWAS Ctlg	rs119480070

Max Magnitude

0

OMIM	605459
Desc
Variant	0006
Related	also

ClinVar
Risk	rs119480070(T;T)
Alt	rs119480070(T;T)
Reference	Rs119480070(G;G)
Significance	Pathogenic
Disease	Sitosterolemia
Variation	info
Gene	ABCG5 ABCG8
CLNDBN	Sitosterolemia
Reversed	1
HGVS	NC_000002.11:g.44065009C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005269.3,