rs386833820

Orientation

minus

Stabilized

minus

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

Make rs386833820(A;G)

Make rs386833820(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22779980

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833820
dbSNP (classic)	rs386833820
ClinGen	rs386833820
ebi	rs386833820
HLI	rs386833820
Exac	rs386833820
Gnomad	rs386833820
Varsome	rs386833820
LitVar	rs386833820
Map	rs386833820
PheGenI	rs386833820
Biobank	rs386833820
1000 genomes	rs386833820
hgdp	rs386833820
ensembl	rs386833820
geneview	rs386833820
scholar	rs386833820
google	rs386833820
pharmgkb	rs386833820
gwascentral	rs386833820
openSNP	rs386833820
23andMe	rs386833820
SNPshot	rs386833820
SNPdbe	rs386833820
MSV3d	rs386833820
GWAS Ctlg	rs386833820

Max Magnitude

0

ClinVar
Risk	rs386833820(G;G)
Alt	rs386833820(G;G)
Reference	Rs386833820(A;A)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23249189T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049785.1,

[PMID 17764084] Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.