rs202247808

Orientation

plus

Stabilized

plus

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

Make rs202247808(A;A)

Make rs202247808(A;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40809579

Gene	MIR621, SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs202247808
dbSNP (classic)	rs202247808
ClinGen	rs202247808
ebi	rs202247808
HLI	rs202247808
Exac	rs202247808
Gnomad	rs202247808
Varsome	rs202247808
LitVar	rs202247808
Map	rs202247808
PheGenI	rs202247808
Biobank	rs202247808
1000 genomes	rs202247808
hgdp	rs202247808
ensembl	rs202247808
geneview	rs202247808
scholar	rs202247808
google	rs202247808
pharmgkb	rs202247808
gwascentral	rs202247808
openSNP	rs202247808
23andMe	rs202247808
SNPshot	rs202247808
SNPdbe	rs202247808
MSV3d	rs202247808
GWAS Ctlg	rs202247808

Max Magnitude

0

ClinVar
Risk	rs202247808(A;A)
Alt	rs202247808(A;A)
Reference	Rs202247808(T;T)
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.41383715T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000031954.1,