rs386833823

minus

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

Make rs386833823(C;T)

Make rs386833823(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22778850

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833823
dbSNP (classic)	rs386833823
ClinGen	rs386833823
ebi	rs386833823
HLI	rs386833823
Exac	rs386833823
Gnomad	rs386833823
Varsome	rs386833823
LitVar	rs386833823
Map	rs386833823
PheGenI	rs386833823
Biobank	rs386833823
1000 genomes	rs386833823
hgdp	rs386833823
ensembl	rs386833823
geneview	rs386833823
scholar	rs386833823
google	rs386833823
pharmgkb	rs386833823
gwascentral	rs386833823
openSNP	rs386833823
23andMe	rs386833823
SNPshot	rs386833823
SNPdbe	rs386833823
MSV3d	rs386833823
GWAS Ctlg	rs386833823

Max Magnitude

0

ClinVar
Risk	rs386833823(G;G) rs386833823(T;T)
Alt	rs386833823(G;G) rs386833823(T;T)
Reference	Rs386833823(C;C)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23248059G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049789.1,

[PMID 12402335] Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.