rs386833807

Orientation

minus

Stabilized

minus

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

Make rs386833807(C;T)

Make rs386833807(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22773960

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833807
dbSNP (classic)	rs386833807
ClinGen	rs386833807
ebi	rs386833807
HLI	rs386833807
Exac	rs386833807
Gnomad	rs386833807
Varsome	rs386833807
LitVar	rs386833807
Map	rs386833807
PheGenI	rs386833807
Biobank	rs386833807
1000 genomes	rs386833807
hgdp	rs386833807
ensembl	rs386833807
geneview	rs386833807
scholar	rs386833807
google	rs386833807
pharmgkb	rs386833807
gwascentral	rs386833807
openSNP	rs386833807
23andMe	rs386833807
SNPshot	rs386833807
SNPdbe	rs386833807
MSV3d	rs386833807
GWAS Ctlg	rs386833807

Max Magnitude

0

ClinVar
Risk	rs386833807(G;G) rs386833807(T;T)
Alt	rs386833807(G;G) rs386833807(T;T)
Reference	Rs386833807(C;C)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23243169G>A
CLNSRC	ClinVar
CLNACC	RCV000049772.1,

[PMID 18716612] Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.