rs104894430

Orientation

plus

Stabilized

plus

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

Make rs104894430(A;A)

Make rs104894430(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40799080

Gene	SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs104894430
dbSNP (classic)	rs104894430
ClinGen	rs104894430
ebi	rs104894430
HLI	rs104894430
Exac	rs104894430
Gnomad	rs104894430
Varsome	rs104894430
LitVar	rs104894430
Map	rs104894430
PheGenI	rs104894430
Biobank	rs104894430
1000 genomes	rs104894430
hgdp	rs104894430
ensembl	rs104894430
geneview	rs104894430
scholar	rs104894430
google	rs104894430
pharmgkb	rs104894430
gwascentral	rs104894430
openSNP	rs104894430
23andMe	rs104894430
SNPshot	rs104894430
SNPdbe	rs104894430
MSV3d	rs104894430
GWAS Ctlg	rs104894430

Max Magnitude

0

OMIM	603861
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894430(A;A)
Alt	rs104894430(A;A)
Reference	Rs104894430(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.41373216G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006361.1,