rs200483989

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a cystinuria mutation

Make rs200483989(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

44286074

Gene

SLC3A1

is a	snp
is	mentioned by
dbSNP	rs200483989
dbSNP (classic)	rs200483989
ClinGen	rs200483989
ebi	rs200483989
HLI	rs200483989
Exac	rs200483989
Gnomad	rs200483989
Varsome	rs200483989
LitVar	rs200483989
Map	rs200483989
PheGenI	rs200483989
Biobank	rs200483989
1000 genomes	rs200483989
hgdp	rs200483989
ensembl	rs200483989
geneview	rs200483989
scholar	rs200483989
google	rs200483989
pharmgkb	rs200483989
gwascentral	rs200483989
openSNP	rs200483989
23andMe	rs200483989
SNPshot	rs200483989
SNPdbe	rs200483989
MSV3d	rs200483989
GWAS Ctlg	rs200483989

Max Magnitude

3

aka c.808C>T (p.Arg270Ter or R270X)

ClinVar
Risk	rs200483989(T;T)
Alt	rs200483989(T;T)
Reference	Rs200483989(C;C)
Significance	Pathogenic
Disease	Cystinuria
Variation	info
Gene	SLC3A1
CLNDBN	Cystinuria
Reversed	0
HGVS	NC_000002.11:g.44513213C>T
CLNSRC	Illumina
CLNACC	RCV000332132.1,