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rs1007160

From SNPedia

Orientationminus
Stabilizedminus
Make rs1007160(A;A)
Make rs1007160(A;C)
Make rs1007160(C;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position32862155
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs1007160
ebirs1007160
HLIrs1007160
Exacrs1007160
Varsomers1007160
Maprs1007160
PheGenIrs1007160
hapmaprs1007160
1000 genomesrs1007160
hgdprs1007160
ensemblrs1007160
gopubmedrs1007160
geneviewrs1007160
scholarrs1007160
googlers1007160
pharmgkbrs1007160
gwascentralrs1007160
openSNPrs1007160
23andMers1007160
23andMe allrs1007160
SNP Nexus

SNPshotrs1007160
SNPdbers1007160
MSV3drs1007160
GWAS Ctlgrs1007160
GMAF0.3026
Max Magnitude
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene SLC7A9
allele T
frequency 0.3
sift TOLERATED
HuRef 1103691130851
Disease Association Defects in SLC7A9 are a cause of non-type I cystinuria (CSNU) (MIM:600918). CSNU arises from impaired transport of cystine and dibasic amino acids through the epithelial cells of the renal tubule and gastrointestinal tract. Three types of cystinuria have been described: type I (fully recessive or silent); type II (high excretor); type III (moderate excretor). Defects in SLC7A9 are associated with type II and type III cystinuria. They also might account for some non-classic type I cystinuria cases.



GET Evidence
SLC7A9-L223M
aa_change Leu223Met
aa_change_short L223M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.326919
summary