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rs202088921

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs202088921(C;T)
Make rs202088921(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132370108
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs202088921
ebirs202088921
HLIrs202088921
Exacrs202088921
Varsomers202088921
Maprs202088921
PheGenIrs202088921
hapmaprs202088921
1000 genomesrs202088921
hgdprs202088921
ensemblrs202088921
gopubmedrs202088921
geneviewrs202088921
scholarrs202088921
googlers202088921
pharmgkbrs202088921
gwascentralrs202088921
openSNPrs202088921
23andMers202088921
23andMe allrs202088921
SNP Nexus

SNPshotrs202088921
SNPdbers202088921
MSV3drs202088921
GWAS Ctlgrs202088921
Max Magnitude0
ClinVar
Risk rs202088921(G,T;G,T)
Alt rs202088921(G,T;G,T)
Reference rs202088921(C;C)
Significance Pathogenic
Disease Renal carnitine transport defect not provided
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect not provided
Reversed 0
HGVS NC_000005.9:g.131705800C>G; NC_000005.9:g.131705800C>T
CLNSRC ARUP SLC22A5
CLNACC RCV000022303.2, RCV000173299.1, RCV000186152.1,


[PMID 17126586] Expanded newborn screening identifies maternal primary carnitine deficiency.