rs72552272

Orientation

minus

Stabilized

minus

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

Make rs72552272(G;G)

Make rs72552272(G;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22775538

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs72552272
dbSNP (classic)	rs72552272
ClinGen	rs72552272
ebi	rs72552272
HLI	rs72552272
Exac	rs72552272
Gnomad	rs72552272
Varsome	rs72552272
LitVar	rs72552272
Map	rs72552272
PheGenI	rs72552272
Biobank	rs72552272
1000 genomes	rs72552272
hgdp	rs72552272
ensembl	rs72552272
geneview	rs72552272
scholar	rs72552272
google	rs72552272
pharmgkb	rs72552272
gwascentral	rs72552272
openSNP	rs72552272
23andMe	rs72552272
SNPshot	rs72552272
SNPdbe	rs72552272
MSV3d	rs72552272
GWAS Ctlg	rs72552272

Max Magnitude

0

OMIM	603593
Desc
Variant	0005
Related	also

ClinVar
Risk	rs72552272(G;G)
Alt	rs72552272(G;G)
Reference	Rs72552272(T;T)
Significance	Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23244747A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006587.4,