rs121908678

Orientation

minus

Stabilized

minus

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

Make rs121908678(C;T)

Make rs121908678(T;T)

Reference

GRCh38 38.1/141

Chromosome

14

Position

22774371

Gene

SLC7A7

is a	snp
is	mentioned by
dbSNP	rs121908678
dbSNP (classic)	rs121908678
ClinGen	rs121908678
ebi	rs121908678
HLI	rs121908678
Exac	rs121908678
Gnomad	rs121908678
Varsome	rs121908678
LitVar	rs121908678
Map	rs121908678
PheGenI	rs121908678
Biobank	rs121908678
1000 genomes	rs121908678
hgdp	rs121908678
ensembl	rs121908678
geneview	rs121908678
scholar	rs121908678
google	rs121908678
pharmgkb	rs121908678
gwascentral	rs121908678
openSNP	rs121908678
23andMe	rs121908678
SNPshot	rs121908678
SNPdbe	rs121908678
MSV3d	rs121908678
GWAS Ctlg	rs121908678

Max Magnitude

0

OMIM	603593
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908678(A;A) rs121908678(T;T)
Alt	rs121908678(A;A) rs121908678(T;T)
Reference	Rs121908678(C;C)
Significance	Pathogenic
Disease	Lysinuric protein intolerance
Variation	info
Gene	SLC7A7
CLNDBN	Lysinuric protein intolerance
Reversed	1
HGVS	NC_000014.8:g.23243580G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006590.4,