rs104894424

Orientation

plus

Stabilized

plus

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

Make rs104894424(A;A)

Make rs104894424(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40807379

Gene	SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs104894424
dbSNP (classic)	rs104894424
ClinGen	rs104894424
ebi	rs104894424
HLI	rs104894424
Exac	rs104894424
Gnomad	rs104894424
Varsome	rs104894424
LitVar	rs104894424
Map	rs104894424
PheGenI	rs104894424
Biobank	rs104894424
1000 genomes	rs104894424
hgdp	rs104894424
ensembl	rs104894424
geneview	rs104894424
scholar	rs104894424
google	rs104894424
pharmgkb	rs104894424
gwascentral	rs104894424
openSNP	rs104894424
23andMe	rs104894424
SNPshot	rs104894424
SNPdbe	rs104894424
MSV3d	rs104894424
GWAS Ctlg	rs104894424

Max Magnitude

0

OMIM	603861
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894424(A;A)
Alt	rs104894424(A;A)
Reference	Rs104894424(G;G)
Significance	Pathogenic
Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation	info
Gene	SLC25A15 TPTE2P5
CLNDBN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed	0
HGVS	NC_000013.10:g.41381515G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006359.1,