rs144020613

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs144020613(A;A)

Make rs144020613(A;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132370031

Gene	LOC553103, SLC22A5

is a	snp
is	mentioned by
dbSNP	rs144020613
dbSNP (classic)	rs144020613
ClinGen	rs144020613
ebi	rs144020613
HLI	rs144020613
Exac	rs144020613
Gnomad	rs144020613
Varsome	rs144020613
LitVar	rs144020613
Map	rs144020613
PheGenI	rs144020613
Biobank	rs144020613
1000 genomes	rs144020613
hgdp	rs144020613
ensembl	rs144020613
geneview	rs144020613
scholar	rs144020613
google	rs144020613
pharmgkb	rs144020613
gwascentral	rs144020613
openSNP	rs144020613
23andMe	rs144020613
SNPshot	rs144020613
SNPdbe	rs144020613
MSV3d	rs144020613
GWAS Ctlg	rs144020613

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs144020613(A;A)
Alt	rs144020613(A;A)
Reference	Rs144020613(T;T)
Significance	Untested
Disease	Renal carnitine transport defect
Variation	info
Gene	LOC553103 SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131705723T>A
CLNSRC	ARUP SLC22A5
CLNACC	RCV000022299.2,