rs386833813

Orientation

minus

Stabilized

minus

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

Make rs386833813(-;-)

Make rs386833813(-;TT)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22813144

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833813
dbSNP (classic)	rs386833813
ClinGen	rs386833813
ebi	rs386833813
HLI	rs386833813
Exac	rs386833813
Gnomad	rs386833813
Varsome	rs386833813
LitVar	rs386833813
Map	rs386833813
PheGenI	rs386833813
Biobank	rs386833813
1000 genomes	rs386833813
hgdp	rs386833813
ensembl	rs386833813
geneview	rs386833813
scholar	rs386833813
google	rs386833813
pharmgkb	rs386833813
gwascentral	rs386833813
openSNP	rs386833813
23andMe	rs386833813
SNPshot	rs386833813
SNPdbe	rs386833813
MSV3d	rs386833813
GWAS Ctlg	rs386833813

Max Magnitude

0

ClinVar
Risk	rs386833813(-;-)
Alt	rs386833813(-;-)
Reference	Rs386833813(TT;TT)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23282353_23282354delAA
CLNSRC	ClinVar
CLNACC	RCV000049778.1,

[PMID 10655553] Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).