rs386833826

Orientation

minus

Stabilized

minus

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

Make rs386833826(-;T)

Make rs386833826(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22776268

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs386833826
dbSNP (classic)	rs386833826
ClinGen	rs386833826
ebi	rs386833826
HLI	rs386833826
Exac	rs386833826
Gnomad	rs386833826
Varsome	rs386833826
LitVar	rs386833826
Map	rs386833826
PheGenI	rs386833826
Biobank	rs386833826
1000 genomes	rs386833826
hgdp	rs386833826
ensembl	rs386833826
geneview	rs386833826
scholar	rs386833826
google	rs386833826
pharmgkb	rs386833826
gwascentral	rs386833826
openSNP	rs386833826
23andMe	rs386833826
SNPshot	rs386833826
SNPdbe	rs386833826
MSV3d	rs386833826
GWAS Ctlg	rs386833826

Max Magnitude

0

ClinVar
Risk	rs386833826(T;T)
Alt	rs386833826(T;T)
Reference	Rs386833826(-;-)
Significance	Probable-Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23245478dupA
CLNSRC	ClinVar
CLNACC	RCV000049792.1,

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