rs146582474

Orientation

plus

Stabilized

plus

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

Make rs146582474(A;A)

Make rs146582474(A;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22775938

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs146582474
dbSNP (classic)	rs146582474
ClinGen	rs146582474
ebi	rs146582474
HLI	rs146582474
Exac	rs146582474
Gnomad	rs146582474
Varsome	rs146582474
LitVar	rs146582474
Map	rs146582474
PheGenI	rs146582474
Biobank	rs146582474
1000 genomes	rs146582474
hgdp	rs146582474
ensembl	rs146582474
geneview	rs146582474
scholar	rs146582474
google	rs146582474
pharmgkb	rs146582474
gwascentral	rs146582474
openSNP	rs146582474
23andMe	rs146582474
SNPshot	rs146582474
SNPdbe	rs146582474
MSV3d	rs146582474
GWAS Ctlg	rs146582474

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs146582474(A;A) rs146582474(C;C)
Alt	rs146582474(A;A) rs146582474(C;C)
Reference	Rs146582474(T;T)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	0
HGVS	NC_000014.8:g.23245147T>C
CLNSRC	ClinVar
CLNACC	RCV000049794.1,

[PMID 17666782] First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.