rs864309480

Orientation

plus

Stabilized

plus

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

Make rs864309480(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

46725461

Gene

SLC2A10

is a	snp
is	mentioned by
dbSNP	rs864309480
dbSNP (classic)	rs864309480
ClinGen	rs864309480
ebi	rs864309480
HLI	rs864309480
Exac	rs864309480
Gnomad	rs864309480
Varsome	rs864309480
LitVar	rs864309480
Map	rs864309480
PheGenI	rs864309480
Biobank	rs864309480
1000 genomes	rs864309480
hgdp	rs864309480
ensembl	rs864309480
geneview	rs864309480
scholar	rs864309480
google	rs864309480
pharmgkb	rs864309480
gwascentral	rs864309480
openSNP	rs864309480
23andMe	rs864309480
SNPshot	rs864309480
SNPdbe	rs864309480
MSV3d	rs864309480
GWAS Ctlg	rs864309480

Max Magnitude

3

ClinVar
Risk	rs864309480(T;T)
Alt	rs864309480(T;T)
Reference	Rs864309480(G;G)
Significance	Pathogenic
Disease	Arterial tortuosity syndrome
Variation	info
Gene	SLC2A10
CLNDBN	Arterial tortuosity syndrome
Reversed	0
HGVS	NC_000020.10:g.45354100G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202496.1,