rs199689137

Orientation

plus

Stabilized

plus

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

Make rs199689137(A;A)

Make rs199689137(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

43822924

Gene	ABCG5, DYNC2LI1

is a	snp
is	mentioned by
dbSNP	rs199689137
dbSNP (classic)	rs199689137
ClinGen	rs199689137
ebi	rs199689137
HLI	rs199689137
Exac	rs199689137
Gnomad	rs199689137
Varsome	rs199689137
LitVar	rs199689137
Map	rs199689137
PheGenI	rs199689137
Biobank	rs199689137
1000 genomes	rs199689137
hgdp	rs199689137
ensembl	rs199689137
geneview	rs199689137
scholar	rs199689137
google	rs199689137
pharmgkb	rs199689137
gwascentral	rs199689137
openSNP	rs199689137
23andMe	rs199689137
SNPshot	rs199689137
SNPdbe	rs199689137
MSV3d	rs199689137
GWAS Ctlg	rs199689137

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs199689137(A;A) rs199689137(C;C) rs199689137(T;T)
Alt	rs199689137(A;A) rs199689137(C;C) rs199689137(T;T)
Reference	Rs199689137(G;G)
Significance	Other
Disease	Sitosterolemia
Variation	info
Gene	DYNC2LI1 ABCG5
CLNDBN	Sitosterolemia
Reversed	0
HGVS	NC_000002.11:g.44050063G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023442.4,