rs386833818

Orientation

minus

Stabilized

minus

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

Make rs386833818(-;T)

Make rs386833818(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22780005

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833818
dbSNP (classic)	rs386833818
ClinGen	rs386833818
ebi	rs386833818
HLI	rs386833818
Exac	rs386833818
Gnomad	rs386833818
Varsome	rs386833818
LitVar	rs386833818
Map	rs386833818
PheGenI	rs386833818
Biobank	rs386833818
1000 genomes	rs386833818
hgdp	rs386833818
ensembl	rs386833818
geneview	rs386833818
scholar	rs386833818
google	rs386833818
pharmgkb	rs386833818
gwascentral	rs386833818
openSNP	rs386833818
23andMe	rs386833818
SNPshot	rs386833818
SNPdbe	rs386833818
MSV3d	rs386833818
GWAS Ctlg	rs386833818

Max Magnitude

0

ClinVar
Risk	rs386833818(T;T)
Alt	rs386833818(T;T)
Reference	Rs386833818(-;-)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23249215dupA
CLNSRC	ClinVar
CLNACC	RCV000049783.1,

[PMID 10631139] Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.