rs564317065

Orientation

plus

Stabilized

plus

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

Make rs564317065(A;A)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

46725773

Gene

SLC2A10

is a	snp
is	mentioned by
dbSNP	rs564317065
dbSNP (classic)	rs564317065
ClinGen	rs564317065
ebi	rs564317065
HLI	rs564317065
Exac	rs564317065
Gnomad	rs564317065
Varsome	rs564317065
LitVar	rs564317065
Map	rs564317065
PheGenI	rs564317065
Biobank	rs564317065
1000 genomes	rs564317065
hgdp	rs564317065
ensembl	rs564317065
geneview	rs564317065
scholar	rs564317065
google	rs564317065
pharmgkb	rs564317065
gwascentral	rs564317065
openSNP	rs564317065
23andMe	rs564317065
SNPshot	rs564317065
SNPdbe	rs564317065
MSV3d	rs564317065
GWAS Ctlg	rs564317065

Max Magnitude

3

ClinVar
Risk	rs564317065(A;A)
Alt	rs564317065(A;A)
Reference	Rs564317065(G;G)
Significance	Pathogenic
Disease	Arterial tortuosity syndrome
Variation	info
Gene	SLC2A10
CLNDBN	Arterial tortuosity syndrome
Reversed	0
HGVS	NC_000020.10:g.45354412G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000202540.1,