rs121908887

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(TAT;TAT)	0	common in clinvar

Make rs121908887(-;A)

Make rs121908887(A;A)

Reference

GRCh38 38.1/141

Chromosome

5

Position

132390839

Gene

SLC22A5

is a	snp
is	mentioned by
dbSNP	rs121908887
dbSNP (classic)	rs121908887
ClinGen	rs121908887
ebi	rs121908887
HLI	rs121908887
Exac	rs121908887
Gnomad	rs121908887
Varsome	rs121908887
LitVar	rs121908887
Map	rs121908887
PheGenI	rs121908887
Biobank	rs121908887
1000 genomes	rs121908887
hgdp	rs121908887
ensembl	rs121908887
geneview	rs121908887
scholar	rs121908887
google	rs121908887
pharmgkb	rs121908887
gwascentral	rs121908887
openSNP	rs121908887
23andMe	rs121908887
SNPshot	rs121908887
SNPdbe	rs121908887
MSV3d	rs121908887
GWAS Ctlg	rs121908887

Max Magnitude

0

OMIM	603377
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908887(A;A)
Alt	rs121908887(A;A)
Reference	Rs121908887(-;-)
Significance	Other
Disease	Renal carnitine transport defect
Variation	info
Gene	SLC22A5
CLNDBN	Renal carnitine transport defect
Reversed	0
HGVS	NC_000005.9:g.131726531dupA
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000006786.9,