rs121434346

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a Hartnup disorder mutation
(G;G)	0	common in clinvar

Make rs121434346(A;A)

Reference

GRCh38 38.1/141

Chromosome

5

Position

1212338

Gene

SLC6A19

is a	snp
is	mentioned by
dbSNP	rs121434346
dbSNP (classic)	rs121434346
ClinGen	rs121434346
ebi	rs121434346
HLI	rs121434346
Exac	rs121434346
Gnomad	rs121434346
Varsome	rs121434346
LitVar	rs121434346
Map	rs121434346
PheGenI	rs121434346
Biobank	rs121434346
1000 genomes	rs121434346
hgdp	rs121434346
ensembl	rs121434346
geneview	rs121434346
scholar	rs121434346
google	rs121434346
pharmgkb	rs121434346
gwascentral	rs121434346
openSNP	rs121434346
23andMe	rs121434346
SNPshot	rs121434346
SNPdbe	rs121434346
MSV3d	rs121434346
GWAS Ctlg	rs121434346

GMAF

0.001837

Max Magnitude

3

aka c.517G>A (p.Asp173Asn)

see also OMIM 608893.0003

OMIM	608893
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121434346(A;A)
Alt	rs121434346(A;A)
Reference	Rs121434346(G;G)
Significance	Pathogenic
Disease	Neutral 1 amino acid transport defect not provided
Variation	info
Gene	SLC6A19
CLNDBN	Neutral 1 amino acid transport defect not provided
Reversed	0
HGVS	NC_000005.9:g.1212453G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002096.4, RCV000413766.1,