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rs386134220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGTCAGCTCCACAGCATC;AGTCAGCTCCACAGCATC) 0 common in clinvar
Make rs386134220(AGTCAGCTCCACAGCATC;CA)
Make rs386134220(CA;CA)
ReferenceGRCh38 38.1/141
Chromosome5
Position132392557
GeneSLC22A5
is asnp
is mentioned by
dbSNPrs386134220
dbSNP (old)rs386134220
ClinGenrs386134220
ebirs386134220
HLIrs386134220
Exacrs386134220
Gnomadrs386134220
Varsomers386134220
Maprs386134220
PheGenIrs386134220
Biobankrs386134220
1000 genomesrs386134220
hgdprs386134220
ensemblrs386134220
gopubmedrs386134220
geneviewrs386134220
scholarrs386134220
googlers386134220
pharmgkbrs386134220
gwascentralrs386134220
openSNPrs386134220
23andMers386134220
23andMe allrs386134220
SNP Nexus

SNPshotrs386134220
SNPdbers386134220
MSV3drs386134220
GWAS Ctlgrs386134220
Max Magnitude0
ClinVar
Risk rs386134220(CA;CA)
Alt rs386134220(CA;CA)
Reference Rs386134220(AGTCAGCTCCACAGCATC;AGTCAGCTCCACAGCATC)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 0
HGVS NC_000005.9:g.131728249_131728266del18insCA
CLNSRC ClinVar
CLNACC RCV000022378.2,