rs202247807

Orientation

plus

Stabilized

plus

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

Make rs202247807(C;T)

Make rs202247807(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

40809584

Gene	MIR621, SLC25A15, TPTE2P5

is a	snp
is	mentioned by
dbSNP	rs202247807
dbSNP (classic)	rs202247807
ClinGen	rs202247807
ebi	rs202247807
HLI	rs202247807
Exac	rs202247807
Gnomad	rs202247807
Varsome	rs202247807
LitVar	rs202247807
Map	rs202247807
PheGenI	rs202247807
Biobank	rs202247807
1000 genomes	rs202247807
hgdp	rs202247807
ensembl	rs202247807
geneview	rs202247807
scholar	rs202247807
google	rs202247807
pharmgkb	rs202247807
gwascentral	rs202247807
openSNP	rs202247807
23andMe	rs202247807
SNPshot	rs202247807
SNPdbe	rs202247807
MSV3d	rs202247807
GWAS Ctlg	rs202247807

Max Magnitude

0

ClinVar
Risk	rs202247807(T;T)
Alt	rs202247807(T;T)
Reference	Rs202247807(C;C)
Significance	Pathogenic
Disease	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Variation	info
Gene	MIR621 SLC25A15 TPTE2P5
CLNDBN	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Reversed	0
HGVS	NC_000013.10:g.41383720C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000031955.1,