rs200785483

Orientation

plus

Stabilized

plus

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

Make rs200785483(G;T)

Make rs200785483(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

62597951

Gene	ANGPTL3, DOCK7

is a	snp
is	mentioned by
dbSNP	rs200785483
dbSNP (classic)	rs200785483
ClinGen	rs200785483
ebi	rs200785483
HLI	rs200785483
Exac	rs200785483
Gnomad	rs200785483
Varsome	rs200785483
LitVar	rs200785483
Map	rs200785483
PheGenI	rs200785483
Biobank	rs200785483
1000 genomes	rs200785483
hgdp	rs200785483
ensembl	rs200785483
geneview	rs200785483
scholar	rs200785483
google	rs200785483
pharmgkb	rs200785483
gwascentral	rs200785483
openSNP	rs200785483
23andMe	rs200785483
SNPshot	rs200785483
SNPdbe	rs200785483
MSV3d	rs200785483
GWAS Ctlg	rs200785483

Max Magnitude

0

ClinVar
Risk	rs200785483(A;A) rs200785483(T;T)
Alt	rs200785483(A;A) rs200785483(T;T)
Reference	Rs200785483(G;G)
Significance	Pathogenic
Disease	Hypobetalipoproteinemia
Variation	info
Gene	DOCK7 ANGPTL3
CLNDBN	Hypobetalipoproteinemia, familial, 2
Reversed	0
HGVS	NC_000001.10:g.63063622G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005685.3,