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rs698761

From SNPedia

Orientationplus
Stabilizedplus
Make rs698761(A;A)
Make rs698761(A;G)
Make rs698761(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position44320435
GenePREPL, SLC3A1
is asnp
is mentioned by
dbSNPrs698761
ebirs698761
HLIrs698761
Exacrs698761
Varsomers698761
Maprs698761
PheGenIrs698761
hapmaprs698761
1000 genomesrs698761
hgdprs698761
ensemblrs698761
gopubmedrs698761
geneviewrs698761
scholarrs698761
googlers698761
pharmgkbrs698761
gwascentralrs698761
openSNPrs698761
23andMers698761
23andMe allrs698761
SNP Nexus

SNPshotrs698761
SNPdbers698761
MSV3drs698761
GWAS Ctlgrs698761
GMAF0.4573
Max Magnitude
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene SLC3A1
allele A
frequency 0.325
sift TOLERATED
HuRef 1103658084574
Disease Association Defects in SLC3A1 are a cause of cystinuria type I (CSNU1) (MIM:220100); also called cystinuria (CSNU), which 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.



GET Evidence
SLC3A1-M618I
aa_change Met618Ile
aa_change_short M618I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.541736
summary