rs267607053

Orientation

plus

Stabilized

plus

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

Make rs267607053(AT;AT)

Make rs267607053(AT;GC)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132392489

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs267607053
dbSNP (classic)	rs267607053
ClinGen	rs267607053
ebi	rs267607053
HLI	rs267607053
Exac	rs267607053
Gnomad	rs267607053
Varsome	rs267607053
LitVar	rs267607053
Map	rs267607053
PheGenI	rs267607053
Biobank	rs267607053
1000 genomes	rs267607053
hgdp	rs267607053
ensembl	rs267607053
geneview	rs267607053
scholar	rs267607053
google	rs267607053
pharmgkb	rs267607053
gwascentral	rs267607053
openSNP	rs267607053
23andMe	rs267607053
SNPshot	rs267607053
SNPdbe	rs267607053
MSV3d	rs267607053
GWAS Ctlg	rs267607053

Max Magnitude

0

ClinVar
Risk	rs267607053(AT;AT)
Alt	rs267607053(AT;AT)
Reference	Rs267607053(GC;GC)
Significance	Pathogenic
Disease	Renal carnitine transport defect not provided
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.131728181_131728182delGCinsAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006797.2, RCV000186157.2,