rs104894429

Orientation

plus

Stabilized

plus

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

Make rs104894429(C;T)

Make rs104894429(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40807376

Gene	SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs104894429
dbSNP (classic)	rs104894429
ClinGen	rs104894429
ebi	rs104894429
HLI	rs104894429
Exac	rs104894429
Gnomad	rs104894429
Varsome	rs104894429
LitVar	rs104894429
Map	rs104894429
PheGenI	rs104894429
Biobank	rs104894429
1000 genomes	rs104894429
hgdp	rs104894429
ensembl	rs104894429
geneview	rs104894429
scholar	rs104894429
google	rs104894429
pharmgkb	rs104894429
gwascentral	rs104894429
openSNP	rs104894429
23andMe	rs104894429
SNPshot	rs104894429
SNPdbe	rs104894429
MSV3d	rs104894429
GWAS Ctlg	rs104894429

Max Magnitude

0

OMIM	603861
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894429(T;T)
Alt	rs104894429(T;T)
Reference	Rs104894429(C;C)
Significance	Pathogenic
Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation	info
Gene	SLC25A15 TPTE2P5
CLNDBN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed	0
HGVS	NC_000013.10:g.41381512C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006360.1,