rs864309478

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;C)	3	Carrier of an arterial tortuosity syndrome mutation
(C;C)	0	common in clinvar

Make rs864309478(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

46725792

Gene

SLC2A10

is a	snp
is	mentioned by
dbSNP	rs864309478
dbSNP (classic)	rs864309478
ClinGen	rs864309478
ebi	rs864309478
HLI	rs864309478
Exac	rs864309478
Gnomad	rs864309478
Varsome	rs864309478
LitVar	rs864309478
Map	rs864309478
PheGenI	rs864309478
Biobank	rs864309478
1000 genomes	rs864309478
hgdp	rs864309478
ensembl	rs864309478
geneview	rs864309478
scholar	rs864309478
google	rs864309478
pharmgkb	rs864309478
gwascentral	rs864309478
openSNP	rs864309478
23andMe	rs864309478
SNPshot	rs864309478
SNPdbe	rs864309478
MSV3d	rs864309478
GWAS Ctlg	rs864309478

Max Magnitude

3

ClinVar
Risk	rs864309478(A;A)
Alt	rs864309478(A;A)
Reference	Rs864309478(C;C)
Significance	Pathogenic
Disease	Arterial tortuosity syndrome
Variation	info
Gene	SLC2A10
CLNDBN	Arterial tortuosity syndrome
Reversed	0
HGVS	NC_000020.10:g.45354431C>A
CLNSRC
CLNACC	RCV000202459.1,