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rs12150889

From SNPedia

Orientationplus
Stabilizedplus
Make rs12150889(A;A)
Make rs12150889(A;G)
Make rs12150889(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position32864149
GeneSLC7A9
is asnp
is mentioned by
dbSNPrs12150889
ebirs12150889
HLIrs12150889
Exacrs12150889
Varsomers12150889
Maprs12150889
PheGenIrs12150889
hapmaprs12150889
1000 genomesrs12150889
hgdprs12150889
ensemblrs12150889
gopubmedrs12150889
geneviewrs12150889
scholarrs12150889
googlers12150889
pharmgkbrs12150889
gwascentralrs12150889
openSNPrs12150889
23andMers12150889
23andMe allrs12150889
SNP Nexus

SNPshotrs12150889
SNPdbers12150889
MSV3drs12150889
GWAS Ctlgrs12150889
GMAF0.326
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SLC7A9
allele G
frequency
sift AFFECT FUNCTION
HuRef 1103691130855
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-V142A
aa_change Val142Ala
aa_change_short V142A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.355363
summary