rs104894431

Orientation

plus

Stabilized

plus

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

Make rs104894431(A;A)

Make rs104894431(A;G)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40809585

Gene	MIR621, SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs104894431
dbSNP (classic)	rs104894431
ClinGen	rs104894431
ebi	rs104894431
HLI	rs104894431
Exac	rs104894431
Gnomad	rs104894431
Varsome	rs104894431
LitVar	rs104894431
Map	rs104894431
PheGenI	rs104894431
Biobank	rs104894431
1000 genomes	rs104894431
hgdp	rs104894431
ensembl	rs104894431
geneview	rs104894431
scholar	rs104894431
google	rs104894431
pharmgkb	rs104894431
gwascentral	rs104894431
openSNP	rs104894431
23andMe	rs104894431
SNPshot	rs104894431
SNPdbe	rs104894431
MSV3d	rs104894431
GWAS Ctlg	rs104894431

Max Magnitude

0

OMIM	603861
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894431(A;A)
Alt	rs104894431(A;A)
Reference	Rs104894431(G;G)
Significance	Pathogenic
Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation	info
Gene	SLC25A15 MIR621 TPTE2P5
CLNDBN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed	0
HGVS	NC_000013.10:g.41383721G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006362.1,